Seymour Packman, MD • UCSF Profiles

Awards

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Basil O'Connor Grant Award, March of Dimes Birth Defects Foundation, 1977-1979
Founding Fellow, American College of Medical Genetics
Special Recognition Award, March of Dimes Birth Defects Foundation
elected to membership, Society for Pediatric Research, and American Pediatric Society

Education & Training

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Fellowship, Medical Genetics Yale University School of Medicine, Department of Human Genetics 1977
Research Associate, Laboratory of Molecular Genetics NIH-NICHHD 1974
Internship, Residency in Pediatrics St Louis Children's Hospital 1971
Fellowship, Genetics Washington University School of Medicine, Department of Internal Medicine 1969
M.D. Medicine Washington University School of Medicine 1968

Grants and Projects

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Postdoctoral Training in Medical Genetics, NIH, 1975-2015
General Clinical Research Center, NIH, 1974-2009
Pediatric Clinical Research Center, NIH, 1981-2007
Inherited Disorders of Copper Transport, NIH NIADDK (RO1), 1994-2003
Newborn Screening Program Area Genetics Center, Genetic Disease Branch, State of California, 1987-2000
Genetic Disorders of Copper Transport, March of Dimes Birth Defects Foundation, 1994-1997
Inborn Errors of Biotin Metabolism, March of Dimes Birth Defects Foundation, 1982-1988
Genetic Disorders of Mammalian Biotin Metabolism, NIH/NIADDK, 1983-1987
Copper Metabolism in the Mottled Mouse, NIH NIGMS (RO1), 1980-1984
Regulation of Intracellular Enzyme Turnover, NIH NIADDK (RO1), 1979-1983
Inherited Hypocupremia - Menkes Disease, NIH Liver Core Center, 1980-1981
Basil O'Connor Starter Research Grant, March of Dimes Birth Defects Foundation, 1977-1979

Publications (31)

Top publication keywords:
Carbamoyl-Phosphate Synthase I Deficiency DiseaseGaucher DiseaseFamilyMaple Syrup Urine DiseaseAdaptation, PsychologicalHyperammonemiaBrain Diseases, MetabolicFabry DiseaseSocial Adjustmentalpha-GalactosidaseNiemann-Pick Disease, Type BPyrrolidinesOrnithine Carbamoyltransferase Deficiency DiseaseEnzyme Replacement TherapyMucopolysaccharidosis II

Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results.
American journal of hematology 2021 Mistry PK, Lukina E, Ben Turkia H, Shankar SP, Baris Feldman H, Ghosn M, Mehta A, Packman S, Lau H, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Foster MC, Gaemers SJM, …
Gaucher disease and SARS-CoV-2 infection: Emerging management challenges.
Molecular genetics and metabolism 2020 Mistry P, Balwani M, Barbouth D, Burrow TA, Ginns EI, Goker-Alpan O, Grabowski GA, Kartha RV, Kishnani PS, Lau H, Lee CU, Lopez G, Maegawa G, Packman S, Prada C, Rosenbloom B, Lal TR, Schiffmann R, …
Quality of life and psychological functioning of pediatric and young adult patients with Gaucher disease, type 1.
American journal of medical genetics. Part A 2020 Alioto AG, Gomez R, Moses J, Paternostro J, Packman S, Packman W
An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.
Genetics in medicine : official journal of the American College of Medical Genetics 2018 Kazi ZB, Desai AK, Troxler RB, Kronn D, Packman S, Sabbadini M, Rizzo WB, Scherer K, Abdul-Rahman O, Tanpaiboon P, Nampoothiri S, Gupta N, Feigenbaum A, Niyazov DM, Sherry L, Segel R, McVie-Wylie A, …
Corrigendum to "Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases" [Mol. Genet. Metab. 118 (2016) 206-213].
Molecular genetics and metabolism 2017 Cassiman D, Packman S, Bembi B, Turkia HB, Al-Sayed M, Schiff M, Imrie J, Mabe P, Takahashi T, Mengel KE, Giugliani R, Cox GF

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Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial.
American journal of hematology 2017 Mistry PK, Lukina E, Ben Turkia H, Shankar SP, Baris H, Ghosn M, Mehta A, Packman S, Pastores G, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Gaemers SJM, Tayag R, Peterschmitt MJ
Ocular findings in a patient with fucosidosis.
American journal of ophthalmology case reports 2016 Sánchez LR, Oatts JT, Duncan JL, Packman S, Moore AT
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
The New England journal of medicine 2016 Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, …
Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.
Molecular genetics and metabolism 2016 Cassiman D, Packman S, Bembi B, Turkia HB, Al-Sayed M, Schiff M, Imrie J, Mabe P, Takahashi T, Mengel KE, Giugliani R, Cox GF
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.
Journal of medical genetics 2015 Germain DP, Charrow J, Desnick RJ, Guffon N, Kempf J, Lachmann RH, Lemay R, Linthorst GE, Packman S, Scott CR, Waldek S, Warnock DG, Weinreb NJ, Wilcox WR
Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial.
JAMA 2015 Mistry PK, Lukina E, Ben Turkia H, Amato D, Baris H, Dasouki M, Ghosn M, Mehta A, Packman S, Pastores G, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Shankar S, Solano MH, Ross L, …
Health-Related Quality of Life in Patients with MPS II.
Journal of genetic counseling 2014 Needham M, Packman W, Quinn N, Rappoport M, Aoki C, Bostrom A, Cordova M, Macias S, Morgan C, Packman S
MPS II: adaptive behavior of patients and impact on the family system.
Journal of genetic counseling 2013 Needham M, Packman W, Rappoport M, Quinn N, Cordova M, Macias S, Morgan C, Packman S
Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation.
JIMD reports 2013 Mendelsohn BA, Mehta N, Hameed B, Pekmezci M, Packman S, Ralph J
Living with Gaucher disease: Emotional health, psychosocial needs and concerns of individuals with Gaucher disease.
American journal of medical genetics. Part A 2010 Packman W, Crosbie TW, Behnken M, Eudy K, Packman S
Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease.
Journal of inherited metabolic disease 2010 Fernández-Guerra P, Navarrete R, Weisiger K, Desviat LR, Packman S, Ugarte M, Rodríguez-Pombo P
Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and alpha-galactosidase A activity.
European heart journal 2010 Wu JC, Ho CY, Skali H, Abichandani R, Wilcox WR, Banikazemi M, Packman S, Sims K, Solomon SD
Psychosocial aspects of patients with Niemann-Pick disease, type B.
American journal of medical genetics. Part A 2009 Henderson SL, Packman W, Packman S
Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2009 Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S, Sorensen SA, Wilcox WR, Desnick RJ
Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male.
Hepatology international 2008 Klein OD, Kostiner DR, Weisiger K, Moffatt E, Lindeman N, Goodman S, Tuchman M, Packman S
Psychosocial issues in families affected by maple syrup urine disease.
Journal of genetic counseling 2007 Packman W, Henderson SL, Mehta I, Ronen R, Danner D, Chesterman B, Packman S
Agalsidase-beta therapy for advanced Fabry disease: a randomized trial.
Annals of internal medicine 2006 Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M, Finkel R, Packman S, Bichet DG, Warnock DG, Desnick RJ, Fabry Disease Clinical Trial Study Group
Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5).
Molecular pharmacology 2006 Urban TJ, Gallagher RC, Brown C, Castro RA, Lagpacan LL, Brett CM, Taylor TR, Carlson EJ, Ferrin TE, Burchard EG, Packman S, Giacomini KM
Pediatric malignancies. Case 2. Peripheral T-cell lymphoma in an adolescent with unsuspected Gaucher disease.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2005 Sanchez R, Etzell J, Kim G, Packman S, Fairley C, Goldsby R
Marinesco-Sjögren syndrome in a male with mild dysmorphism.
American journal of medical genetics. Part A 2005 Slavotinek A, Goldman J, Weisiger K, Kostiner D, Golabi M, Packman S, Wilcox W, Hoyme HE, Sherr E
Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation.
Journal of pediatric orthopedics 2004 Weisstein JS, Delgado E, Steinbach LS, Hart K, Packman S
Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders.
AJNR. American journal of neuroradiology 2003 Takanashi J, Barkovich AJ, Cheng SF, Weisiger K, Zlatunich CO, Mudge C, Rosenthal P, Tuchman M, Packman S
T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease.
AJNR. American journal of neuroradiology 2003 Takanashi J, Barkovich AJ, Dillon WP, Sherr EH, Hart KA, Packman S
Brain MR imaging in acute hyperammonemic encephalopathy arising from late-onset ornithine transcarbamylase deficiency.
AJNR. American journal of neuroradiology 2003 Takanashi J, Barkovich AJ, Cheng SF, Kostiner D, Baker JC, Packman S
Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia.
Human genetics 2003 Caldovic L, Morizono H, Panglao MG, Cheng SF, Packman S, Tuchman M
Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy.
Annals of internal medicine 2003 Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WR

Seymour Packman, MDProfessor EmeritusPediatricsSchool of Medicine