Paul Harmatz, MD
Professor
Pediatrics
School of Medicine

Harmatz's research focuses in particular on promising new treatments for MPS disease. He has led clinical trials to evaluate treatments for a variety of MPS and other lysosomal storage diseases, resulting in approval from the Food and Drug Administration for five specific treatments. He also led the first trial on a drug to treat mucopolysaccharidosis type VI (also called Maroteaux-Lamy syndrome or MPS VI). In addition, he led a trial in which genome editing was done inside a human body for the first time in an effort to change the DNA of a patient with mucopolysaccharidosis type II (also known as Hunter syndrome or MPS II).

Harmatz earned his medical degree from Dartmouth Geisel School of Medicine. He completed a residency in pediatrics at Harbor – UCLA Medical Center, followed by a fellowship in pediatric gastroenterology and nutrition at Massachusetts General Hospital. Prior to joining UCSF, he served on the faculty of Harvard Medical School for 12 years.

Harmatz is a member of the Society for the Study of Inborn Errors of Metabolism, Society for Inherited Metabolic Disorders and American Society of Gene & Cell Therapy. In 2017, UCSF awarded him a medical science career achievement award.

• Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial.
  The Lancet. Child & adolescent health 2023 Savarirayan R, Wilcox WR, Harmatz P, Phillips J, Polgreen LE, Tofts L, Ozono K, Arundel P, Irving M, Bacino CA, Basel D, Bober MB, Charrow J, Mochizuki H, Kotani Y, Saal HM, Army C, Jeha G, Qi Y, Han …
• Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study.
  Orphanet journal of rare diseases 2023 Muenzer J, Burton BK, Amartino HM, Harmatz PR, Gutiérrez-Solana LG, Ruiz-Garcia M, Wu Y, Merberg D, Alexanderian D, Jones SA
• Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects.
  Prenatal diagnosis 2023 Herzeg A, Borges B, Lianoglou BR, Gonzalez-Velez J, Canepa E, Munar D, Young SP, Bali D, Gelb MH, Chakraborty P, Kishnani PS, Harmatz P, Cohen JL, MacKenzie TC
• Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey.
  Molecular genetics and metabolism reports 2023 Lau H, Harmatz P, Botha J, Audi J, Link B
• Corrigendum to: Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study.
  Molecular genetics and metabolism 2023 Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D, HGT-HIT-094 Study Group
• Corrigendum to "Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II".
  Molecular genetics and metabolism 2023 Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D, SHP609-302 study group
• Growth patterns in patients with mucopolysaccharidosis VII.
  Molecular genetics and metabolism reports 2023 Montaño AM, Rózdzynska-Swiatkowska A, Jurecka A, Ramirez AN, Zhang L, Marsden D, Wang RY, Harmatz P
• Persistent bone and joint disease despite current treatments for mucopolysaccharidosis types I, II, and VI: Data from a 10-year prospective study.
  Journal of inherited metabolic disease 2023 Miller BS, Fung EB, White KK, Lund TC, Harmatz P, Orchard PJ, Whitley CB, Polgreen LE
• A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B.
  The Journal of clinical investigation 2023 Muschol N, Koehn A, von Cossel K, Okur I, Ezgu F, Harmatz P, de Castro Lopez MJ, Couce ML, Lin SP, Batzios S, Cleary M, Solano M, Nestrasil I, Kaufman B, Shaywitz AJ, Maricich SM, Kuca B, Kovalchin J,…
• In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.
  The New England journal of medicine 2022 Cohen JL, Chakraborty P, Fung-Kee-Fung K, Schwab ME, Bali D, Young SP, Gelb MH, Khaledi H, DiBattista A, Smallshaw S, Moretti F, Wong D, Lacroix C, El Demellawy D, Strickland KC, Lougheed J, Moon-…
• Current and new therapies for mucopolysaccharidoses.
  Pediatrics and neonatology 2022 Penon-Portmann M, Blair DR, Harmatz P
• First-in-human in vivo genome editing via AAV-zinc-finger nucleases for mucopolysaccharidosis I/II and hemophilia B.
  Molecular therapy : the journal of the American Society of Gene Therapy 2022 Harmatz P, Prada CE, Burton BK, Lau H, Kessler CM, Cao L, Falaleeva M, Villegas AG, Zeitler J, Meyer K, Miller W, Wong Po Foo C, Vaidya S, Swenson W, Shiue LH, Rouy D, Muenzer J
• Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study.
  Genetics in medicine : official journal of the American College of Medical Genetics 2022 Savarirayan R, Irving M, Harmatz P, Delgado B, Wilcox WR, Philips J, Owen N, Bacino CA, Tofts L, Charrow J, Polgreen LE, Hoover-Fong J, Arundel P, Ginebreda I, Saal HM, Basel D, Font RU, Ozono K, …
• Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study.
  Molecular genetics and metabolism 2022 Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D, HGT-HIT-094 Study Group
• Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II.
  Molecular genetics and metabolism 2022 Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D, SHP609-302 study group
• Chemically modified recombinant human sulfamidase (SOBI003) in mucopolysaccharidosis IIIA patients: Results from an open, non-controlled, multicenter study.
  Molecular genetics and metabolism 2022 Harmatz P, Muenzer J, Ezgü F, Dalén P, Huledal G, Lindqvist D, Gelius SS, Wikén M, Önnestam K, Bröijersén A
• Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB.
  The Journal of pediatrics 2022 Okur I, Ezgu F, Giugliani R, Muschol N, Koehn A, Amartino H, Harmatz P, de Castro Lopez MJ, Couce ML, Lin SP, Batzios S, Cleary M, Solano M, Peters H, Lee J, Nestrasil I, Shaywitz AJ, Maricich SM, …
• RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A.
  Molecular genetics and metabolism reports 2022 Sohn YB, Rogers C, Stallworth J, Cooley Coleman JA, Buch L, Jozwiak E, Johnson JA, Wood T, Harmatz P, Pollard L, Louie RJ
• Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies.
  Therapeutic advances in musculoskeletal disease 2022 Savarirayan R, De Bergua JM, Arundel P, McDevitt H, Cormier-Daire V, Saraff V, Skae M, Delgado B, Leiva-Gea A, Santos-Simarro F, Salles JP, Nicolino M, Rossi M, Kannu P, Bober MB, Phillips J, Saal H, …
• Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair.
  Molecular genetics and metabolism reports 2022 Grant N, Sohn YB, Ellinwood NM, Okenfuss E, Mendelsohn BA, Lynch LE, Braunlin EA, Harmatz PR, Eisengart JB
• Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients.
  Orphanet journal of rare diseases 2022 Schwab ME, Brown JEH, Lianoglou B, Jin C, Conroy PC, Gallagher RC, Harmatz P, MacKenzie TC
• Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I.
  Molecular genetics and metabolism 2022 Kovac V, Shapiro EG, Rudser KD, Mueller BA, Eisengart JB, Delaney KA, Ahmed A, King KE, Yund BD, Cowan MJ, Raiman J, Mamak EG, Harmatz PR, Shankar SP, Ali N, Cagle SR, Wozniak JR, Lim KO, Orchard PJ, …
• Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients.
  Orphanet journal of rare diseases 2021 Leiro B, Phillips D, Duiker M, Harmatz P, Charles S
• Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS).
  Orphanet journal of rare diseases 2021 Muenzer J, Botha J, Harmatz P, Giugliani R, Kampmann C, Burton BK
• Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment.
  Journal of inherited metabolic disease 2021 Mengel E, Patterson MC, Da Riol RM, Del Toro M, Deodato F, Gautschi M, Grunewald S, Grønborg S, Harmatz P, Héron B, Maier EM, Roubertie A, Santra S, Tylki-Szymanska A, Day S, Andreasen AK, Geist MA, …
• Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study.
  Genetics in medicine : official journal of the American College of Medical Genetics 2021 Savarirayan R, Tofts L, Irving M, Wilcox WR, Bacino CA, Hoover-Fong J, Font RU, Harmatz P, Rutsch F, Bober MB, Polgreen LE, Ginebreda I, Mohnike K, Charrow J, Hoernschemeyer D, Ozono K, Alanay Y, …
• Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy.
  Molecular genetics and metabolism 2021 Garcia P, Phillips D, Johnson J, Martin K, Randolph LM, Rosenfeld H, Harmatz P
• Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial.
  Lancet (London, England) 2020 Savarirayan R, Tofts L, Irving M, Wilcox W, Bacino CA, Hoover-Fong J, Ullot Font R, Harmatz P, Rutsch F, Bober MB, Polgreen LE, Ginebreda I, Mohnike K, Charrow J, Hoernschemeyer D, Ozono K, Alanay Y, …
• Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints.
  Molecular genetics and metabolism 2020 van der Lee JH, Morton J, Adams HR, Clarke L, Eisengart JB, Escolar ML, Giugliani R, Harmatz P, Hogan M, Kearney S, Muenzer J, Muschol N, Rust S, Saville BR, Semrud-Clikeman M, Wang R, Shapiro E
• Corrigendum to "The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII" [Mol Genet Metab 2020 Mar;129(3):219-227].
  Molecular genetics and metabolism 2020 Wang RY, da Silva Franco JF, López-Valdez J, Martins E, Sutton VR, Whitley CB, Zhang L, Cimms T, Marsden D, Jurecka A, Harmatz P
• ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.
  Human mutation 2020 Elsea SH, Solyom A, Martin K, Harmatz P, Mitchell J, Lampe C, Grant C, Selim L, Mungan NO, Guelbert N, Magnusson B, Sundberg E, Puri R, Kapoor S, Arslan N, DiRocco M, Zaki M, Ozen S, Mahmoud IG, …
• Assessing the impact of the five senses on quality of life in mucopolysaccharidoses.
  Orphanet journal of rare diseases 2020 Giugliani R, Harmatz P, Lin SP, Scarpa M
• The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII.
  Molecular genetics and metabolism 2020 Wang RY, da Silva Franco JF, López-Valdez J, Martins E, Sutton VR, Whitley CB, Zhang L, Cimms T, Marsden D, Jurecka A, Harmatz P
• Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study.
  Molecular genetics and metabolism 2019 Chen AH, Harmatz P, Nestrasil I, Eisengart JB, King KE, Rudser K, Kaizer AM, Svatkova A, Wakumoto A, Le SQ, Madden J, Young S, Zhang H, Polgreen LE, Dickson PI
• Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program.
  Molecular genetics and metabolism 2019 Lampe C, Harmatz PR, Parini R, Sharma R, Teles EL, Johnson J, Sivam D, Sisic Z
• Efficacy and Safety of Asfotase Alfa in Infants and Young Children With Hypophosphatasia: A Phase 2 Open-Label Study.
  The Journal of clinical endocrinology and metabolism 2019 Hofmann CE, Harmatz P, Vockley J, Högler W, Nakayama H, Bishop N, Martos-Moreno GÁ, Moseley S, Fujita KP, Liese J, Rockman-Greenberg C, ENB-010-10 Study Group
• Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population.
  JIMD reports 2019 Haller C, Song W, Cimms T, Chen CY, Whitley CB, Wang RY, Bauer M, Harmatz P
• C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.
  The New England journal of medicine 2019 Savarirayan R, Irving M, Bacino CA, Bostwick B, Charrow J, Cormier-Daire V, Le Quan Sang KH, Dickson P, Harmatz P, Phillips J, Owen N, Cherukuri A, Jayaram K, Jeha GS, Larimore K, Chan ML, Huntsman …
• Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance.
  Orphanet journal of rare diseases 2019 Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger KI, Borgo A, Braunlin E, Eto Y, Gold JI, Jester A, Jones SA, Karsli C, Mackenzie W, Marinho DR, McFadyen A, McGill J, Mitchell JJ, Muenzer …
• Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.
  Orphanet journal of rare diseases 2019 Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger KI, Borgo A, Braunlin E, Eto Y, Gold JI, Jester A, Jones SA, Karsli C, Mackenzie W, Marinho DR, McFadyen A, McGill J, Mitchell JJ, Muenzer …
• Attention and corpus callosum volumes in individuals with mucopolysaccharidosis type I.
  Neurology 2019 King KE, Rudser KD, Nestrasil I, Kovac V, Delaney KA, Wozniak JR, Mueller BA, Lim KO, Eisengart JB, Mamak EG, Raiman J, Ali N, Cagle S, Harmatz P, Whitley CB, Shapiro EG
• Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program.
  Journal of inherited metabolic disease 2019 Harmatz PR, Lampe C, Parini R, Sharma R, Teles EL, Johnson J, Sivam D, Sisic Z
• Spinal cord issues in adult patients with MPS: transition of care survey.
  Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2018 Ghotme KA, Alvarado-Gomez F, Lampe C, White KK, Solano-Villareal M, Giugliani R, Harmatz PR
• Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis.
  Journal of inherited metabolic disease 2018 Lund AM, Borgwardt L, Cattaneo F, Ardigò D, Geraci S, Gil-Campos M, De Meirleir L, Laroche C, Dolhem P, Cole D, Tylki-Szymanska A, Lopez-Rodriguez M, Guillén-Navarro E, Dali CI, Héron B, Fogh J, …
• Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis.
  Molecular genetics and metabolism 2018 Harmatz P, Cattaneo F, Ardigò D, Geraci S, Hennermann JB, Guffon N, Lund A, Hendriksz CJ, Borgwardt L
• Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B.
  The Journal of pediatrics 2018 Whitley CB, Cleary M, Eugen Mengel K, Harmatz P, Shapiro E, Nestrasil I, Haslett P, Whiteman D, Alexanderian D
• Risks of long-term port use in enzyme replacement therapy for lysosomal storage disorders.
  Molecular genetics and metabolism reports 2018 Hendriksz CJ, Harmatz P, Giugliani R, Roberts J, Arul GS
• A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease.
  Molecular genetics and metabolism 2018 Harmatz P, Whitley CB, Wang RY, Bauer M, Song W, Haller C, Kakkis E
• Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).
  American journal of medical genetics. Part A 2017 Ficicioglu C, Giugliani R, Harmatz P, Mendelsohn NJ, Jego V, Parini R
• Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study.
  Molecular genetics and metabolism 2017 Hendriksz CJ, Parini R, AlSayed MD, Raiman J, Giugliani R, Mitchell JJ, Burton BK, Guelbert N, Stewart FJ, Hughes DA, Matousek R, Hawley SM, Decker C, Harmatz PR
• Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa.
  JIMD reports 2017 Berger KI, Burton BK, Lewis GD, Tarnopolsky M, Harmatz PR, Mitchell JJ, Muschol N, Jones SA, Sutton VR, Pastores GM, Lau H, Sparkes R, Shaywitz AJ
• Surgical management of neurological manifestations of mucopolysaccharidosis disorders.
  Molecular genetics and metabolism 2017 Alden TD, Amartino H, Dalla Corte A, Lampe C, Harmatz PR, Vedolin L
• Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.
  Molecular genetics and metabolism 2017 Kishnani PS, Rush ET, Arundel P, Bishop N, Dahir K, Fraser W, Harmatz P, Linglart A, Munns CF, Nunes ME, Saal HM, Seefried L, Ozono K
• Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure.
  Molecular genetics and metabolism 2017 van der Lee JH, Morton J, Adams HR, Clarke L, Ebbink BJ, Escolar ML, Giugliani R, Harmatz P, Hogan M, Jones S, Kearney S, Muenzer J, Rust S, Semrud-Clikeman M, Wijburg FA, Yu ZF, Janzen D, Shapiro E
• Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.
  Orphanet journal of rare diseases 2017 Muenzer J, Jones SA, Tylki-Szymanska A, Harmatz P, Mendelsohn NJ, Guffon N, Giugliani R, Burton BK, Scarpa M, Beck M, Jangelind Y, Hernberg-Stahl E, Larsen MP, Pulles T, Whiteman DAH
• The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
  Molecular genetics and metabolism 2017 Harmatz P, Hendriksz CJ, Lampe C, McGill JJ, Parini R, Leão-Teles E, Valayannopoulos V, Cole TJ, Matousek R, Graham S, Guffon N, Quartel A, MPS VI Study Group
• Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients.
  Molecular genetics and metabolism reports 2017 Giugliani R, Harmatz P, Jones SA, Mendelsohn NJ, Vellodi A, Qiu Y, Hendriksz CJ, Vijayaraghavan S, Whiteman DA, Pano A
• Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment.
  Frontiers in bioscience (Landmark edition) 2017 Harmatz P, Shediac R
• Long-term Immunogenicity of Elosulfase Alfa in the Treatment of Morquio A Syndrome: Results From MOR-005, a Phase III Extension Study.
  Clinical therapeutics 2016 Long B, Tompkins T, Decker C, Jesaitis L, Khan S, Slasor P, Harmatz P, O'Neill CA, Schweighardt B
• Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study.
  American journal of medical genetics. Part A 2016 Harmatz PR, Mengel E, Geberhiwot T, Muschol N, Hendriksz CJ, Burton BK, Jameson E, Berger KI, Jester A, Treadwell M, Sisic Z, Decker C
• Pregnancy in patients with mucopolysaccharidosis: a case series.
  Molecular genetics and metabolism reports 2016 Stewart FJ, Bentley A, Burton BK, Guffon N, Hale SL, Harmatz PR, Kircher SG, Kochhar PK, Mitchell JJ, Plöckinger U, Graham S, Sande S, Sisic Z, Johnston TA
• Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome.
  Journal of inherited metabolic disease 2016 Hendriksz CJ, Berger KI, Parini R, AlSayed MD, Raiman J, Giugliani R, Mitchell JJ, Burton BK, Guelbert N, Stewart F, Hughes DA, Matousek R, Jurecki E, Decker C, Harmatz PR
• Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome.
  Molecular genetics and metabolism 2016 Hendriksz CJ, Parini R, AlSayed MD, Raiman J, Giugliani R, Solano Villarreal ML, Mitchell JJ, Burton BK, Guelbert N, Stewart F, Hughes DA, Berger KI, Slasor P, Matousek R, Jurecki E, Shaywitz AJ, …
• Cervical cord compression in mucopolysaccharidosis VI (MPS VI): Findings from the MPS VI Clinical Surveillance Program (CSP).
  Molecular genetics and metabolism 2016 Solanki GA, Sun PP, Martin KW, Hendriksz CJ, Lampe C, Guffon N, Hung A, Sisic Z, Shediac R, Harmatz PR, CSP Study Group
• The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS).
  Molecular genetics and metabolism 2016 Parini R, Jones SA, Harmatz PR, Giugliani R, Mendelsohn NJ
• Implementing evidence-driven individualized treatment plans within Morquio A Syndrome.
  Molecular genetics and metabolism 2015 Clarke LA, Harmatz P, Fong EW
• Safety and clinical activity of elosulfase alfa in pediatric patients with Morquio A syndrome (mucopolysaccharidosis IVA) less than 5 y.
  Pediatric research 2015 Jones SA, Bialer M, Parini R, Martin K, Wang H, Yang K, Shaywitz AJ, Harmatz P
• Data from subjects receiving intrathecal laronidase for cervical spinal stenosis due to mucopolysaccharidosis type I.
  Data in brief 2015 Dickson PI, Kaitila I, Harmatz P, Mlikotic A, Chen AH, Victoroff A, Passage MB, Madden J, Le SQ, Naylor DE, Mucopolysaccharidosis I Intrathecal Research Collaborative
• Enzyme Replacement Therapies and Immunogenicity in Lysosomal Storage Diseases: Is There a Pattern?
  Clinical therapeutics 2015 Harmatz P
• Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I.
  Molecular genetics and metabolism 2015 Dickson PI, Kaitila I, Harmatz P, Mlikotic A, Chen AH, Victoroff A, Passage MB, Madden J, Le SQ, Naylor DE, Mucopolysaccharidosis I Intrathecal Research Collaborative
• Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment.
  Molecular genetics and metabolism 2015 Shapiro EG, Nestrasil I, Rudser K, Delaney K, Kovac V, Ahmed A, Yund B, Orchard PJ, Eisengart J, Niklason GR, Raiman J, Mamak E, Cowan MJ, Bailey-Olson M, Harmatz P, Shankar SP, Cagle S, Ali N, …
• Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study.
  American journal of medical genetics. Part A 2015 Burton BK, Berger KI, Lewis GD, Tarnopolsky M, Treadwell M, Mitchell JJ, Muschol N, Jones SA, Sutton VR, Pastores GM, Lau H, Sparkes R, Genter F, Shaywitz AJ, Harmatz P
• Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase.
  Molecular genetics and metabolism 2015 Smith L, Rhead W, Charrow J, Shankar SP, Bavdekar A, Longo N, Mardach R, Harmatz P, Hangartner T, Lee HM, Crombez E, Pastores GM
• Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome).
  JIMD reports 2014 Quartel A, Hendriksz CJ, Parini R, Graham S, Lin P, Harmatz P
• Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II.
  Molecular genetics and metabolism 2014 Yund B, Rudser K, Ahmed A, Kovac V, Nestrasil I, Raiman J, Mamak E, Harmatz P, Steiner R, Lau H, Vekaria P, Wozniak JR, Lim KO, Delaney K, Whitley C, Shapiro EG
• Pulmonary hypertension in well-transfused thalassemia major patients.
  Blood cells, molecules & diseases 2014 Meloni A, Detterich J, Pepe A, Harmatz P, Coates TD, Wood JC
• Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome.
  Molecular genetics and metabolism 2014 Harmatz PR, Mengel KE, Giugliani R, Valayannopoulos V, Lin SP, Parini R, Guffon N, Burton BK, Hendriksz CJ, Mitchell JJ, Martins AM, Jones SA, Guelbert N, Vellodi A, Wijburg FA, Yang K, Slasor P, …
• International guidelines for the management and treatment of Morquio A syndrome.
  American journal of medical genetics. Part A 2014 Hendriksz CJ, Berger KI, Giugliani R, Harmatz P, Kampmann C, Mackenzie WG, Raiman J, Villarreal MS, Savarirayan R
• Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database.
  Human mutation 2014 Morrone A, Caciotti A, Atwood R, Davidson K, Du C, Francis-Lyon P, Harmatz P, Mealiffe M, Mooney S, Oron TR, Ryles A, Zawadzki KA, Miller N
• Mechanisms of plasma non-transferrin bound iron generation: insights from comparing transfused diamond blackfan anaemia with sickle cell and thalassaemia patients.
  British journal of haematology 2014 Porter JB, Walter PB, Neumayr LD, Evans P, Bansal S, Garbowski M, Weyhmiller MG, Harmatz PR, Wood JC, Miller JL, Byrnes C, Weiss G, Seifert M, Grosse R, Grabowski D, Schmidt A, Fischer R, Nielsen P, …
• Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial.
  Molecular genetics and metabolism 2014 Hendriksz CJ, Giugliani R, Harmatz P, Mengel E, Guffon N, Valayannopoulos V, Parini R, Hughes D, Pastores GM, Lau HA, Al-Sayed MD, Raiman J, STRIVE Investigators, Yang K, Mealiffe M, Haller C
• Orthopedic management of the extremities in patients with Morquio A syndrome.
  Journal of children's orthopaedics 2014 White KK, Jester A, Bache CE, Harmatz PR, Shediac R, Thacker MM, Mackenzie WG
• Quantification of prenatal liver and spleen iron in a sheep model and assessment of iron stores in a human neonate with neonatal hemochromatosis using R2* mapping.
  Magnetic resonance in medical sciences : MRMS : an official journal of Japan Society of Magnetic Resonance in Medicine 2014 Schoennagel BP, Remus CC, Wedegaertner U, Salzmann I, Grabhorn E, Adam G, Fischer R, Harmatz P, Kooijman H, Yamamura J
• Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study.
  Journal of inherited metabolic disease 2014 Hendriksz CJ, Burton B, Fleming TR, Harmatz P, Hughes D, Jones SA, Lin SP, Mengel E, Scarpa M, Valayannopoulos V, Giugliani R, STRIVE Investigators, Slasor P, Lounsbury D, Dummer W
• Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)--10-year follow-up of patients who previously participated in an MPS VI Survey Study.
  American journal of medical genetics. Part A 2014 Giugliani R, Lampe C, Guffon N, Ketteridge D, Leão-Teles E, Wraith JE, Jones SA, Piscia-Nichols C, Lin P, Quartel A, Harmatz P
• Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI.
  Journal of inherited metabolic disease 2013 Harmatz PR, Garcia P, Guffon N, Randolph LM, Shediac R, Braunlin E, Lachman RS, Decker C
• Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure.
  Orphanet journal of rare diseases 2013 Langereis EJ, Borgo A, Crushell E, Harmatz PR, van Hasselt PM, Jones SA, Kelly PM, Lampe C, van der Lee JH, Odent T, Sakkers R, Scarpa M, Schafroth MU, Struijs PA, Valayannopoulos V, White KK, Wijburg…
• Immune response to intrathecal enzyme replacement therapy in mucopolysaccharidosis I patients.
  Pediatric research 2013 Vera M, Le S, Kan SH, Garban H, Naylor D, Mlikotic A, Kaitila I, Harmatz P, Chen A, Dickson P
• Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT.
  PloS one 2013 Banugaria SG, Prater SN, Patel TT, Dearmey SM, Milleson C, Sheets KB, Bali DS, Rehder CW, Raiman JA, Wang RA, Labarthe F, Charrow J, Harmatz P, Chakraborty P, Rosenberg AS, Kishnani PS
• Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome).
  JIMD reports 2013 Möllmann C, Lampe CG, Müller-Forell W, Scarpa M, Harmatz P, Schwarz M, Beck M, Lampe C
• Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.
  Molecular genetics and metabolism 2013 Hendriksz CJ, Harmatz P, Beck M, Jones S, Wood T, Lachman R, Gravance CG, Orii T, Tomatsu S
• The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS).
  Molecular genetics and metabolism 2013 Jones SA, Parini R, Harmatz P, Giugliani R, Fang J, Mendelsohn NJ, HOS Natural History Working Group on behalf of HOS Investigators
• Craniocervical decompression in patients with mucopolysaccharidosis VI: development of a scoring system to determine indication and outcome of surgery.
  Journal of inherited metabolic disease 2013 Lampe C, Lampe C, Schwarz M, Müller-Forell W, Harmatz P, Mengel E
• The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects.
  Molecular genetics and metabolism 2013 Harmatz P, Mengel KE, Giugliani R, Valayannopoulos V, Lin SP, Parini R, Guffon N, Burton BK, Hendriksz CJ, Mitchell J, Martins A, Jones S, Guelbert N, Vellodi A, Hollak C, Slasor P, Decker C
• Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management.
  Journal of inherited metabolic disease 2013 Solanki GA, Martin KW, Theroux MC, Lampe C, White KK, Shediac R, Lampe CG, Beck M, Mackenzie WG, Hendriksz CJ, Harmatz PR
• Diagnosing mucopolysaccharidosis IVA.
  Journal of inherited metabolic disease 2013 Wood TC, Harvey K, Beck M, Burin MG, Chien YH, Church HJ, D'Almeida V, van Diggelen OP, Fietz M, Giugliani R, Harmatz P, Hawley SM, Hwu WL, Ketteridge D, Lukacs Z, Miller N, Pasquali M, Schenone A, …
• Exercise performance in thalassemia major: correlation with cardiac iron burden.
  American journal of hematology 2013 Sohn EY, Kato R, Noetzli LJ, Gera A, Coates T, Harmatz P, Keens TG, Wood JC
• Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase.
  American journal of hematology 2013 Zimran A, Pastores GM, Tylki-Szymanska A, Hughes DA, Elstein D, Mardach R, Eng C, Smith L, Heisel-Kurth M, Charrow J, Harmatz P, Fernhoff P, Rhead W, Longo N, Giraldo P, Ruiz JA, Zahrieh D, Crombez E,…
• Increased leucocyte apoptosis in transfused β-thalassaemia patients.
  British journal of haematology 2012 Walter PB, Porter J, Evans P, Kwiatkowski JL, Neufeld EJ, Coates T, Giardina PJ, Grady RW, Vichinsky E, Olivieri N, Trachtenberg F, Alberti D, Fung E, Ames B, Higa A, Harmatz P, Thalassemia Clinical …
• Anaesthesia and airway management in mucopolysaccharidosis.
  Journal of inherited metabolic disease 2012 Walker R, Belani KG, Braunlin EA, Bruce IA, Hack H, Harmatz PR, Jones S, Rowe R, Solanki GA, Valdemarsson B
• Combined chelation therapy with deferasirox and deferoxamine in thalassemia.
  Blood cells, molecules & diseases 2012 Lal A, Porter J, Sweeters N, Ng V, Evans P, Neumayr L, Kurio G, Harmatz P, Vichinsky E
• A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI.
  Molecular genetics and metabolism 2012 Solanki GA, Alden TD, Burton BK, Giugliani R, Horovitz DD, Jones SA, Lampe C, Martin KW, Ryan ME, Schaefer MK, Siddiqui A, White KK, Harmatz P
• Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy.
  Journal of inherited metabolic disease 2012 Braunlin E, Rosenfeld H, Kampmann C, Johnson J, Beck M, Giugliani R, Guffon N, Ketteridge D, Sá Miranda CM, Scarpa M, Schwartz IV, Leão Teles E, Wraith JE, Barrios P, Dias da Silva E, Kurio G, …
• Expert recommendations for the laboratory diagnosis of MPS VI.
  Molecular genetics and metabolism 2012 Wood T, Bodamer OA, Burin MG, D'Almeida V, Fietz M, Giugliani R, Hawley SM, Hendriksz CJ, Hwu WL, Ketteridge D, Lukacs Z, Mendelsohn NJ, Miller N, Pasquali M, Schenone A, Schoonderwoerd K, Winchester …
• A phase 2 study of the safety, tolerability, and pharmacodynamics of FBS0701, a novel oral iron chelator, in transfusional iron overload.
  Blood 2012 Neufeld EJ, Galanello R, Viprakasit V, Aydinok Y, Piga A, Harmatz P, Forni GL, Shah FT, Grace RF, Porter JB, Wood JC, Peppe J, Jones A, Rienhoff HY
• Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP).
  Journal of inherited metabolic disease 2011 Hendriksz CJ, Giugliani R, Harmatz P, Lampe C, Martins AM, Pastores GM, Steiner RD, Leão Teles E, Valayannopoulos V, CSP Study Group
• Electrocardiographic consequences of cardiac iron overload in thalassemia major.
  American journal of hematology 2011 Detterich J, Noetzli L, Dorey F, Bar-Cohen Y, Harmatz P, Coates T, Wood J
• The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus.
  European journal of pediatrics 2011 Muenzer J, Bodamer O, Burton B, Clarke L, Frenking GS, Giugliani R, Jones S, Rojas MV, Scarpa M, Beck M, Harmatz P
• Iron chelation therapy in thalassemia major: a systematic review with meta-analyses of 1520 patients included on randomized clinical trials.
  Blood cells, molecules & diseases 2011 Maggio A, Filosa A, Vitrano A, Aloj G, Kattamis A, Ceci A, Fucharoen S, Cianciulli P, Grady RW, Prossomariti L, Porter JB, Iacono A, Cappellini MD, Bonifazi F, Cassarà F, Harmatz P, Wood J, Gluud C
• Pulmonary function in thalassaemia major and its correlation with body iron stores.
  British journal of haematology 2011 Sohn EY, Noetzli LJ, Gera A, Kato R, Coates TD, Harmatz P, Keens TG, Wood JC
• Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management.
  Journal of inherited metabolic disease 2011 Braunlin EA, Harmatz PR, Scarpa M, Furlanetto B, Kampmann C, Loehr JP, Ponder KP, Roberts WC, Rosenfeld HM, Giugliani R
• Relationship between labile plasma iron, liver iron concentration and cardiac response in a deferasirox monotherapy trial.
  Haematologica 2011 Wood JC, Glynos T, Thompson A, Giardina P, Harmatz P, Kang BP, Paley C, Coates TD
• Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome.
  Genetics in medicine : official journal of the American College of Medical Genetics 2011 Muenzer J, Beck M, Eng CM, Giugliani R, Harmatz P, Martin R, Ramaswami U, Vellodi A, Wraith JE, Cleary M, Gucsavas-Calikoglu M, Puga AC, Shinawi M, Ulbrich B, Vijayaraghavan S, Wendt S, Conway AM, …
• A phase 1 dose-escalation study: safety, tolerability, and pharmacokinetics of FBS0701, a novel oral iron chelator for the treatment of transfusional iron overload.
  Haematologica 2010 Rienhoff HY, Viprakasit V, Tay L, Harmatz P, Vichinsky E, Chirnomas D, Kwiatkowski JL, Tapper A, Kramer W, Porter JB, Neufeld EJ
• Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey.
  Genetics in medicine : official journal of the American College of Medical Genetics 2010 Mendelsohn NJ, Harmatz P, Bodamer O, Burton BK, Giugliani R, Jones SA, Lampe C, Malm G, Steiner RD, Parini R, Hunter Outcome Survey Investigators
• Follow-up report on the 2-year cardiac data from a deferasirox monotherapy trial.
  American journal of hematology 2010 Wood JC, Glynos T, Thompson A, Giardina P, Harmatz P, Kang BP, Paley C, Coates TD
• Diagnosis and management of ophthalmological features in patients with mucopolysaccharidosis.
  The British journal of ophthalmology 2010 Ferrari S, Ponzin D, Ashworth JL, Fahnehjelm KT, Summers CG, Harmatz PR, Scarpa M
• Enzyme replacement therapy with galsulfase for mucopolysaccharidosis VI: clinical facts and figures.
  The Turkish journal of pediatrics 2010 Harmatz P
• Management of chronic viral hepatitis in patients with thalassemia: recommendations from an international panel.
  Blood 2010 Di Marco V, Capra M, Angelucci E, Borgna-Pignatti C, Telfer P, Harmatz P, Kattamis A, Prossamariti L, Filosa A, Rund D, Gamberini MR, Cianciulli P, De Montalembert M, Gagliardotto F, Foster G, Grangè …
• The effect of deferasirox on cardiac iron in thalassemia major: impact of total body iron stores.
  Blood 2010 Wood JC, Kang BP, Thompson A, Giardina P, Harmatz P, Glynos T, Paley C, Coates TD
• Mucopolysaccharidosis VI.
  Orphanet journal of rare diseases 2010 Valayannopoulos V, Nicely H, Harmatz P, Turbeville S
• Elevated exhaled carbon monoxide concentration in hemoglobinopathies and its relation to red blood cell transfusion therapy.
  Pediatric hematology and oncology 2010 James EB, Vreman HJ, Wong RJ, Stevenson DK, Vichinsky E, Schumacher L, Hall JY, Simon J, Golden DW, Harmatz P
• Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.
  Journal of inherited metabolic disease 2010 Harmatz P, Yu ZF, Giugliani R, Schwartz IV, Guffon N, Teles EL, Miranda MC, Wraith JE, Beck M, Arash L, Scarpa M, Ketteridge D, Hopwood JJ, Plecko B, Steiner R, Whitley CB, Kaplan P, Swiedler SJ, …
• Assessment of cardiac iron by MRI susceptometry and R2* in patients with thalassemia.
  Magnetic resonance imaging 2010 Wang ZJ, Fischer R, Chu Z, Mahoney DH, Mueller BU, Muthupillai R, James EB, Krishnamurthy R, Chung T, Padua E, Vichinsky E, Harmatz P
• Bone density assessment in patients with mucopolysaccharidosis: A preliminary report from patients with MPS II and VI.
  Journal of pediatric rehabilitation medicine 2010 Fung EB, Johnson JA, Madden J, Kim T, Harmatz P
• Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.
  Journal of pediatric rehabilitation medicine 2010 Decker C, Yu ZF, Giugliani R, Schwartz IV, Guffon N, Teles EL, Miranda MC, Wraith JE, Beck M, Arash L, Scarpa M, Ketteridge D, Hopwood JJ, Plecko B, Steiner R, Whitley CB, Kaplan P, Swiedler SJ, …
• Orthopedic management of mucopolysaccharide disease.
  Journal of pediatric rehabilitation medicine 2010 White KK, Harmatz P
• Iron metabolism and iron chelation in sickle cell disease.
  Acta haematologica 2009 Walter PB, Harmatz P, Vichinsky E
• Multidisciplinary management of Hunter syndrome.
  Pediatrics 2009 Muenzer J, Beck M, Eng CM, Escolar ML, Giugliani R, Guffon NH, Harmatz P, Kamin W, Kampmann C, Koseoglu ST, Link B, Martin RA, Molter DW, Muñoz Rojas MV, Ogilvie JW, Parini R, Ramaswami U, Scarpa M, …
• Patterns of hepatic iron distribution in patients with chronically transfused thalassemia and sickle cell disease.
  American journal of hematology 2009 Ghugre NR, Gonzalez-Gomez I, Butensky E, Noetzli L, Fischer R, Williams R, Harmatz P, Coates TD, Wood JC
• Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study.
  The Journal of pediatrics 2009 Trefz FK, Burton BK, Longo N, Casanova MM, Gruskin DJ, Dorenbaum A, Kakkis ED, Crombez EA, Grange DK, Harmatz P, Lipson MH, Milanowski A, Randolph LM, Vockley J, Whitley CB, Wolff JA, Bebchuk J, …
• Altered iron metabolism in children with human immunodeficiency virus disease.
  Pediatric hematology and oncology 2009 Butensky James E, Harmatz P, Lee M, Kennedy C, Petru A, Wara D, Miaskowski C
• Non-invasive assessment of tissue iron overload.
  Hematology. American Society of Hematology. Education Program 2009 Fischer R, Harmatz PR
• Folate concentrations in pediatric patients with newly diagnosed inflammatory bowel disease.
  The American journal of clinical nutrition 2008 Heyman MB, Garnett EA, Shaikh N, Huen K, Jose FA, Harmatz P, Winter HS, Baldassano RN, Cohen SA, Gold BD, Kirschner BS, Ferry GD, Stege E, Holland N
• Italian Society of Hematology guidelines for thalassemia and non-invasive iron measurements.
  Haematologica 2008 Nielsen P, Engelhardt R, Grosse R, Janka G, Harmatz P, Fischer R
• Vitamin C treatment reduces elevated C-reactive protein.
  Free radical biology & medicine 2008 Block G, Jensen CD, Dalvi TB, Norkus EP, Hudes M, Crawford PB, Holland N, Fung EB, Schumacher L, Harmatz P
• Safety and efficacy of pegylated interferon alpha-2a and ribavirin for the treatment of hepatitis C in patients with thalassemia.
  Haematologica 2008 Harmatz P, Jonas MM, Kwiatkowski JL, Wright EC, Fischer R, Vichinsky E, Giardina PJ, Neufeld EJ, Porter J, Olivieri N, Thalassemia Clinical Research Network
• Disparity in the management of iron overload between patients with sickle cell disease and thalassemia who received transfusions.
  Transfusion 2008 Fung EB, Harmatz PR, Milet M, Balasa V, Ballas SK, Casella JF, Hilliard L, Kutlar A, McClain KL, Olivieri NF, Porter JB, Vichinsky EP, Multi-Center Iron Overload Research Group
• Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase.
  Molecular genetics and metabolism 2008 Harmatz P, Giugliani R, D Schwartz IV, Guffon N, Teles EL, Miranda MCS, Wraith JE, Beck M, Arash L, Scarpa M, Ketteridge D, Hopwood JJ, Plecko B, Steiner R, Whitley CB, Kaplan P, Yu ZF, Swiedler SJ, …
• Inflammation and oxidant-stress in beta-thalassemia patients treated with iron chelators deferasirox (ICL670) or deferoxamine: an ancillary study of the Novartis CICL670A0107 trial.
  Haematologica 2008 Walter PB, Macklin EA, Porter J, Evans P, Kwiatkowski JL, Neufeld EJ, Coates T, Giardina PJ, Vichinsky E, Olivieri N, Alberti D, Holland J, Harmatz P, Thalassemia Clinical Research Network
• Reversed papilledema in an MPS VI patient with galsulfase (Naglazyme) therapy.
  International ophthalmology 2008 Koseoglu ST, Harmatz P, Turbeville S, Nicely H
• The effect of vitamins C and E on biomarkers of oxidative stress depends on baseline level.
  Free radical biology & medicine 2008 Block G, Jensen CD, Morrow JD, Holland N, Norkus EP, Milne GL, Hudes M, Dalvi TB, Crawford PB, Fung EB, Schumacher L, Harmatz P
• Fracture prevalence and relationship to endocrinopathy in iron overloaded patients with sickle cell disease and thalassemia.
  Bone 2008 Fung EB, Harmatz PR, Milet M, Coates TD, Thompson AA, Ranalli M, Mignaca R, Scher C, Giardina P, Robertson S, Neumayr L, Vichinsky EP, Multi-Center Iron Overload Study Group
• Entering a new treatment age for mucopolysaccharidosis VI disease: a search for better markers of disease progression and response to treatment.
  Jornal de pediatria 2008 Harmatz P
• Reduced intracellular T-helper 1 interferon-gamma in blood of newly diagnosed children with Crohn's disease and age-related changes in Th1/Th2 cytokine profiles.
  Pediatric research 2008 Holland N, Dong J, Garnett E, Shaikh N, Huen K, Harmatz P, Olive A, Winter HS, Gold BD, Cohen SA, Baldassano RN, Kirschner BS, Heyman MB
• Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome).
  Pediatrics 2008 Martin R, Beck M, Eng C, Giugliani R, Harmatz P, Muñoz V, Muenzer J
• Transfusional iron burden and liver toxicity after bone marrow transplantation for acute myelogenous leukemia and hemoglobinopathies.
  Pediatric blood & cancer 2008 Jastaniah W, Harmatz P, Pakbaz Z, Fischer R, Vichinsky E, Walters MC
• Pharmacokinetics of sapropterin in patients with phenylketonuria.
  Clinical pharmacokinetics 2008 Feillet F, Clarke L, Meli C, Lipson M, Morris AA, Harmatz P, Mould DR, Green B, Dorenbaum A, Giovannini M, Foehr E, Sapropterin Research Group
• Mutational analysis of 105 mucopolysaccharidosis type VI patients.
  Human mutation 2007 Karageorgos L, Brooks DA, Pollard A, Melville EL, Hein LK, Clements PR, Ketteridge D, Swiedler SJ, Beck M, Giugliani R, Harmatz P, Wraith JE, Guffon N, Leão Teles E, Sá Miranda MC, Hopwood JJ
• Serum ferritin underestimates liver iron concentration in transfusion independent thalassemia patients as compared to regularly transfused thalassemia and sickle cell patients.
  Pediatric blood & cancer 2007 Pakbaz Z, Fischer R, Fung E, Nielsen P, Harmatz P, Vichinsky E
• Management guidelines for mucopolysaccharidosis VI.
  Pediatrics 2007 Giugliani R, Harmatz P, Wraith JE
• Phase Ib clinical trial of starch-conjugated deferoxamine (40SD02): a novel long-acting iron chelator.
  British journal of haematology 2007 Harmatz P, Grady RW, Dragsten P, Vichinsky E, Giardina P, Madden J, Jeng M, Miller B, Hanson G, Hedlund B
• Iron homeostasis during transfusional iron overload in beta-thalassemia and sickle cell disease: changes in iron regulatory protein, hepcidin, and ferritin expression.
  Pediatric hematology and oncology 2007 Jenkins ZA, Hagar W, Bowlus CL, Johansson HE, Harmatz P, Vichinsky EP, Theil EC
• Morbidity and mortality in chronically transfused subjects with thalassemia and sickle cell disease: A report from the multi-center study of iron overload.
  American journal of hematology 2007 Fung EB, Harmatz P, Milet M, Ballas SK, De Castro L, Hagar W, Owen W, Olivieri N, Smith-Whitley K, Darbari D, Wang W, Vichinsky E, Multi-Center Study of Iron Overload Research Group
• Cytogenetic damage in blood lymphocytes and exfoliated epithelial cells of children with inflammatory bowel disease.
  Pediatric research 2007 Holland N, Harmatz P, Golden D, Hubbard A, Wu YY, Bae J, Chen C, Huen K, Heyman MB
• Caregiving time in sickle cell disease: psychological effects in maternal caregivers.
  Pediatric blood & cancer 2007 Moskowitz JT, Butensky E, Harmatz P, Vichinsky E, Heyman MB, Acree M, Wrubel J, Wilson L, Folkman S
• Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy.
  Molecular genetics and metabolism 2006 Karageorgos L, Brooks DA, Harmatz P, Ketteridge D, Pollard A, Melville EL, Parkinson-Lawrence E, Clements PR, Hopwood JJ
• Increased prevalence of iron-overload associated endocrinopathy in thalassaemia versus sickle-cell disease.
  British journal of haematology 2006 Fung EB, Harmatz PR, Lee PD, Milet M, Bellevue R, Jeng MR, Kalinyak KA, Hudes M, Bhatia S, Vichinsky EP, Multi-Centre Study of Iron Overload Research Group
• Oxidative stress and inflammation in iron-overloaded patients with beta-thalassaemia or sickle cell disease.
  British journal of haematology 2006 Walter PB, Fung EB, Killilea DW, Jiang Q, Hudes M, Madden J, Porter J, Evans P, Vichinsky E, Harmatz P
• Does liver biopsy overestimate liver iron concentration?
  Blood 2006 Fischer R, Harmatz P, Nielsen P
• A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome).
  Genetics in medicine : official journal of the American College of Medical Genetics 2006 Muenzer J, Wraith JE, Beck M, Giugliani R, Harmatz P, Eng CM, Vellodi A, Martin R, Ramaswami U, Gucsavas-Calikoglu M, Vijayaraghavan S, Wendt S, Wendt S, Puga AC, Puga A, Ulbrich B, Shinawi M, Cleary …
• Does liver biopsy overestimate liver iron concentration?
  Blood 2006 Fischer R, Harmatz P, Nielsen P
• Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study.
  The Journal of pediatrics 2006 Harmatz P, Giugliani R, Schwartz I, Guffon N, Teles EL, Miranda MC, Wraith JE, Beck M, Arash L, Scarpa M, Yu ZF, Wittes J, Berger KI, Newman MS, Lowe AM, Kakkis E, Swiedler SJ, MPS VI Phase 3 Study …
• Comparison of organ dysfunction in transfused patients with SCD or beta thalassemia.
  American journal of hematology 2005 Vichinsky E, Butensky E, Fung E, Hudes M, Theil E, Ferrell L, Williams R, Louie L, Lee PD, Harmatz P
• The economic burden of home care for children with HIV and other chronic illnesses.
  American journal of public health 2005 Wilson LS, Moskowitz JT, Acree M, Heyman MB, Harmatz P, Ferrando SJ, Folkman S
• Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase.
  Pediatrics 2005 Harmatz P, Ketteridge D, Giugliani R, Guffon N, Teles EL, Miranda MC, Yu ZF, Swiedler SJ, Hopwood JJ, MPS VI Study Group
• Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
  American journal of medical genetics. Part A 2005 Swiedler SJ, Beck M, Bajbouj M, Giugliani R, Schwartz I, Harmatz P, Wraith JE, Roberts J, Ketteridge D, Hopwood JJ, Guffon N, Sá Miranda MC, Teles EL, Berger KI, Piscia-Nichols C
• Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a phase I/II study.
  Acta paediatrica (Oslo, Norway : 1992). Supplement 2005 Harmatz P, Kramer WG, Hopwood JJ, Simon J, Butensky E, Swiedler SJ, Mucopolysaccharidosis VI Study Group
• A simple model to assess and improve adherence to iron chelation therapy with deferoxamine in patients with thalassemia.
  Annals of the New York Academy of Sciences 2005 Pakbaz Z, Fischer R, Treadwell M, Yamashita R, Fung EB, Calvelli L, Quirolo K, Foote D, Harmatz P, Vichinsky EP
• Monitoring long-term efficacy of iron chelation treatment with biomagnetic liver susceptometry.
  Annals of the New York Academy of Sciences 2005 Fischer R, Piga A, Harmatz P, Nielsen P
• Treatment of hepatitis C virus infection in thalassemia.
  Annals of the New York Academy of Sciences 2005 Butensky E, Pakbaz Z, Foote D, Walters MC, Vichinsky EP, Harmatz P
• Variability in hepatic iron concentration in percutaneous needle biopsy specimens from patients with transfusional hemosiderosis.
  American journal of clinical pathology 2005 Butensky E, Fischer R, Hudes M, Schumacher L, Williams R, Moyer TP, Vichinsky E, Harmatz P
• Interaction of artificial metallic objects with biosusceptometric measurements.
  Neurology & clinical neurophysiology : NCN 2004 Engelhardt R, Fung EB, Kelly P, Biehl TR, Pakbaz Z, Nielsen P, Harmatz P, Fischer R
• The new SQUID biosusceptometer at Oakland: first year of experience.
  Neurology & clinical neurophysiology : NCN 2004 Fung EB, Fischer R, Pakbaz Z, Fagaly RL, Vichinsky E, Starr TN, Ewing T, Paulson DN, Hassenzahl WV, Harmatz P
• Potential mechanisms for altered iron metabolism in human immunodeficiency virus disease.
  The Journal of the Association of Nurses in AIDS Care : JANAC 2004 Butensky E, Kennedy CM, Lee MM, Harmatz P, Miaskowski C
• Economic and psychologic costs for maternal caregivers of gastrostomy-dependent children.
  The Journal of pediatrics 2004 Heyman MB, Harmatz P, Acree M, Wilson L, Moskowitz JT, Ferrando S, Folkman S
• Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
  The Journal of pediatrics 2004 Harmatz P, Whitley CB, Waber L, Pais R, Steiner R, Plecko B, Kaplan P, Simon J, Butensky E, Hopwood JJ
• Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy.
  Human mutation 2004 Karageorgos L, Harmatz P, Simon J, Pollard A, Clements PR, Brooks DA, Hopwood JJ
• Bioelectrical impedance analysis of the body composition of children and adolescents with sickle cell disease.
  The Journal of pediatrics 2002 VanderJagt DJ, Harmatz P, Scott-Emuakpor AB, Vichinsky E, Glew RH
• Characterization of glycated hemoglobin in diabetic patients: usefulness of electrospray mass spectrometry in monitoring the extent and distribution of glycation.
  Journal of chromatography. B, Biomedical sciences and applications 2001 Zhang X, Medzihradszky KF, Cunningham J, Lee PD, Rognerud CL, Ou CN, Harmatz P, Witkowska HE
• Correlation of abnormal intracranial vessel velocity, measured by transcranial Doppler ultrasonography, with abnormal conjunctival vessel velocity, measured by computer-assisted intravital microscopy, in sickle cell disease.
  Blood 2001 Cheung AT, Harmatz P, Wun T, Chen PC, Larkin EC, Adams RJ, Vichinsky EP
• Severity of iron overload in patients with sickle cell disease receiving chronic red blood cell transfusion therapy.
  Blood 2000 Harmatz P, Butensky E, Quirolo K, Williams R, Ferrell L, Moyer T, Golden D, Neumayr L, Vichinsky E
• Validation of the Natus CO-Stat End Tidal Breath Analyzer in children and adults.
  Journal of clinical monitoring and computing 1999 Vreman HJ, Wong RJ, Harmatz P, Fanaroff AA, Berman B, Stevenson DK
• Effects of red blood cell transfusion on resting energy expenditure in adolescents with sickle cell anemia.
  Journal of pediatric gastroenterology and nutrition 1999 Harmatz P, Heyman MB, Cunningham J, Lee PD, Styles L, Quirolo K, Kopp-Hoolihan L, Ghiron J, Hintz RL, Vichinsky E
• Polyamines in human and rat milk influence intestinal cell growth in vitro.
  Journal of pediatric gastroenterology and nutrition 1998 Capano G, Bloch KJ, Carter EA, Dascoli JA, Schoenfeld D, Harmatz PR
• Low ceruloplasmin levels during recovery from major burn injury: influence of open wound size and copper supplementation.
  Nutrition (Burbank, Los Angeles County, Calif.) 1996 Cunningham JJ, Lydon MK, Emerson R, Harmatz PR
• Elevated plasma ceruloplasmin in insulin-dependent diabetes mellitus: evidence for increased oxidative stress as a variable complication.
  Metabolism: clinical and experimental 1995 Cunningham J, Leffell M, Mearkle P, Harmatz P
• Influence of the polyamine, spermidine, on intestinal maturation and dietary antigen uptake in the neonatal rat.
  Journal of pediatric gastroenterology and nutrition 1994 Capano G, Bloch KJ, Schiffrin EJ, Dascoli JA, Israel EJ, Harmatz PR
• Ontogeny of Ia messenger RNA in the mouse small intestinal epithelium is modulated by age of weaning and diet.
  Gastroenterology 1993 Sanderson IR, Ouellette AJ, Carter EA, Harmatz PR
• Burn severity, copper dose, and plasma ceruloplasmin in burned children during total parenteral nutrition.
  Nutrition (Burbank, Los Angeles County, Calif.) 1993 Cunningham JJ, Leffell M, Harmatz P
• Differential regulation of B7 mRNA in enterocytes and lymphoid cells.
  Immunology 1993 Sanderson IR, Ouellette AJ, Carter EA, Walker WA, Harmatz PR
• Intestinal adaptation during lactation in the mouse. II. Altered intestinal processing of a dietary protein.
  The American journal of physiology 1993 Harmatz PR, Carrington PW, Giovino-Barry V, Hatz RA, Bloch KJ
• Ontogeny of class II MHC mRNA in the mouse small intestinal epithelium.
  Molecular immunology 1992 Sanderson IR, Ouellette AJ, Carter EA, Harmatz PR
• Effect of thermal injury on transfer of IR22 IgA myeloma protein into bile in the rat.
  Liver 1992 Cappeller WA, Bloch KJ, Fagundes J, Carter EA, Sullivan D, Harmatz PR
• Reduction in biliary IgA after burn injury. Role of diminished delivery via the thoracic duct and of enhanced loss from the systemic circulation.
  Annals of surgery 1992 Cappeller WA, Bloch KJ, Hatz RA, Carter EA, Fagundes J, Sullivan DA, Harmatz PR
• Expression of MHC class II (Ia) antigen by the neonatal enterocyte: the effect of treatment with interferon-gamma.
  Immunology 1991 Hughes A, Bloch KJ, Bhan AK, Gillen D, Giovino VC, Harmatz PR
• Major histocompatibility complex class II expression on enterocytes: to present or not to present.
  Gastroenterology 1991 Russell GJ, Harmatz PR
• Transfer of enterally administered proteins from lactating mouse to neonate: the potential role of environmental contamination.
  Advances in experimental medicine and biology 1991 Murphy MS, Bloch KJ, Giovino V, Harmatz PR
• Divalent hapten-induced intestinal anaphylaxis in the mouse enhances macromolecular uptake from the stomach.
  Gastroenterology 1990 Hatz RA, Bloch KJ, Harmatz PR, Gonnella PA, Ariniello PD, Walker WA, Kleinman RE
• Divalent hapten-induced intestinal anaphylaxis in the mouse: uptake and characterization of a bystander protein.
  Immunology 1989 Kleinman RE, Harmatz PR, Hatz RA, Brown M, Ariniello PD, Walker WA, Bloch KJ
• Effect of thermal injury in the rat on transfer of IgA protein into bile.
  Annals of surgery 1989 Harmatz PR, Carter EA, Sullivan D, Hatz RA, Baker R, Breazeale E, Grant K, Bloch KJ
• Prolactin is transported across the epithelium of the jejunum and ileum of the suckling rat.
  Journal of cellular physiology 1989 Gonnella PA, Harmatz P, Walker WA
• Intestinal adaptation during lactation in the mouse. I. Enhanced intestinal uptake of dietary protein antigen.
  Immunology 1989 Harmatz PR, Bloch KJ, Brown M, Walker WA, Kleinman RE
• Transfer of dietary protein in breast milk.
  Annals of allergy 1988 Harmatz PR, Bloch KJ
• Trichloroacetic acid (TCA) precipitability of 125I in the blood of mice fed 125I.
  Journal of immunological methods 1987 Harmatz PR, Walsh MK, Walker WA, Hanson DG, Bloch KJ
• Structural and functional maturation of rat gastrointestinal barrier with thyroxine.
  The American journal of physiology 1987 Israel EJ, Pang KY, Harmatz PR, Walker WA
• Barrier defense function of the small intestine: effect of ethanol and acute burn trauma.
  Advances in experimental medicine and biology 1987 Carter EA, Harmatz PR, Udall JN, Walker WA
• Biliary IgA content following common duct cannulation in the rat.
  Advances in experimental medicine and biology 1987 Seo JK, Grant KE, Sullivan DA, Hanson DG, Bloch KJ, Harmatz PR, Walker WA
• Clearance, localization and catabolism of intravenously administered protein antigens in lactating mice.
  Advances in experimental medicine and biology 1987 Harmatz PR, Hanson DG, Walsh MK, Kleinman RE, Bloch KJ, Walker WA
• Transfer of protein antigens into milk after intravenous injection into lactating mice.
  The American journal of physiology 1986 Harmatz PR, Hanson DG, Walsh MK, Kleinman RE, Bloch KJ, Walker WA
• Influence of circulating maternal antibody on the transfer of dietary antigen to neonatal mice via milk.
  Immunology 1986 Harmatz PR, Bloch KJ, Kleinman RE, Walsh MK, Walker WA
• Food proteins and gut mucosal barrier. III. The influence of lactation and prolactin on the in vitro binding and uptake of bovine serum albumin and ovalbumin in the rat jejunum.
  Pediatric research 1985 Stern M, Harmatz PR, Kleinman RE, Walker WA
• Sonographic demonstration of reversible portal vein thrombosis following splenectomy in an adolescent.
  Journal of clinical ultrasound : JCU 1984 Papanicolaou N, Harmatz P, Simeone JF, Truman JT, Ferrucci JT
• The effect of bile duct obstruction on the clearance of circulating IgA immune complexes.
  Hepatology (Baltimore, Md.) 1984 Harmatz PR, Kleinman RE, Bunnell BW, McClenathan DT, Walker WA, Bloch KJ
• Passive transplacental immunization: influence on the detection of enteric antigen in the systemic circulation.
  Pediatric research 1983 Kleinman RE, Harmatz PR, Jacobson LA, Udall JN, Bloch KJ, Walker WA
• Hepatobiliary clearance of IgA immune complexes formed in the circulation.
  Hepatology (Baltimore, Md.) 1982 Harmatz PR, Kleinman RE, Bunnell BW, Bloch KJ, Walker WA
• The liver: an integral part of the enteric mucosal immune system.
  Hepatology (Baltimore, Md.) 1982 Kleinman RE, Harmatz PR, Walker WA
• Successful treatment of primary amebic meningoencephalitis.
  The New England journal of medicine 1982 Seidel JS, Harmatz P, Visvesvara GS, Cohen A, Edwards J, Turner J
• The genetics of pheromonally mediated aggression in mice. I. Strain difference in the capacity of male urinary odors to elicit aggression.
  Behavior genetics 1975 Kessler S, Harmatz P, Gerling SA
• Postisolation aggression and olfactory cues.
  Behavioral biology 1975 Harmatz P, Boelkins RC, Kessler S