Seymour Packman, MD

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

  1. 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, Peterschmitt MJ. 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. PMID: 34161616


  2. 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, Weinreb N, Sidransky E. Gaucher disease and SARS-CoV-2 infection: Emerging management challenges. Molecular genetics and metabolism 2020. PMID: 32471800


  3. Alioto AG, Gomez R, Moses J, Paternostro J, Packman S, Packman W. 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. PMID: 32125090


  4. 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, Sung C, Joseph AM, Richards S, Kishnani PS. 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. PMID: 30214072


  5. 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. 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. PMID: 29129654


  6. 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. 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. PMID: 28762527


  7. Sánchez LR, Oatts JT, Duncan JL, Packman S, Moore AT. Ocular findings in a patient with fucosidosis. American journal of ophthalmology case reports 2016. PMID: 29503934


  8. 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, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R. Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat. The New England journal of medicine 2016. PMID: 27509102


  9. 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. 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. PMID: 27198631


  10. 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. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. Journal of medical genetics 2015. PMID: 25795794


  11. 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, Angell J, Peterschmitt MJ. Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial. JAMA 2015. PMID: 25688781


  12. Needham M, Packman W, Quinn N, Rappoport M, Aoki C, Bostrom A, Cordova M, Macias S, Morgan C, Packman S. Health-Related Quality of Life in Patients with MPS II. Journal of genetic counseling 2014. PMID: 25395377


  13. Uesaka T, Young HM, Pachnis V, Enomoto H. Development of the intrinsic and extrinsic innervation of the gut. Developmental biology 2016. PMID: 24190099


  14. Mendelsohn BA, Mehta N, Hameed B, Pekmezci M, Packman S, Ralph J. Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation. JIMD reports 2013. PMID: 24190800


  15. Packman W, Crosbie TW, Behnken M, Eudy K, Packman S. Living with Gaucher disease: Emotional health, psychosocial needs and concerns of individuals with Gaucher disease. American journal of medical genetics. Part A 2010. PMID: 20635362


  16. Fernández-Guerra P, Navarrete R, Weisiger K, Desviat LR, Packman S, Ugarte M, Rodríguez-Pombo P. 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. PMID: 20431954


  17. Wu JC, Ho CY, Skali H, Abichandani R, Wilcox WR, Banikazemi M, Packman S, Sims K, Solomon SD. Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and alpha-galactosidase A activity. European heart journal 2010. PMID: 20061327


  18. Henderson SL, Packman W, Packman S. Psychosocial aspects of patients with Niemann-Pick disease, type B. American journal of medical genetics. Part A 2009. PMID: 19877061


  19. Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S, Sorensen SA, Wilcox WR, Desnick RJ. 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. PMID: 19218538


  20. Klein OD, Kostiner DR, Weisiger K, Moffatt E, Lindeman N, Goodman S, Tuchman M, Packman S. Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male. Hepatology international 2008. PMID: 19669271


  21. Packman W, Henderson SL, Mehta I, Ronen R, Danner D, Chesterman B, Packman S. Psychosocial issues in families affected by maple syrup urine disease. Journal of genetic counseling 2007. PMID: 17703353


  22. 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. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Annals of internal medicine 2006. PMID: 17179052


  23. Urban TJ, Gallagher RC, Brown C, Castro RA, Lagpacan LL, Brett CM, Taylor TR, Carlson EJ, Ferrin TE, Burchard EG, Packman S, Giacomini KM. Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5). Molecular pharmacology 2006. PMID: 16931768


  24. Sanchez R, Etzell J, Kim G, Packman S, Fairley C, Goldsby R. 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. PMID: 16034056


  25. Slavotinek A, Goldman J, Weisiger K, Kostiner D, Golabi M, Packman S, Wilcox W, Hoyme HE, Sherr E. Marinesco-Sjögren syndrome in a male with mild dysmorphism. American journal of medical genetics. Part A 2005. PMID: 15633176


  26. Weisstein JS, Delgado E, Steinbach LS, Hart K, Packman S. Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation. Journal of pediatric orthopedics 2004. PMID: 14676543


  27. Takanashi J, Barkovich AJ, Cheng SF, Weisiger K, Zlatunich CO, Mudge C, Rosenthal P, Tuchman M, Packman S. Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders. AJNR. American journal of neuroradiology 2003. PMID: 12812952


  28. Takanashi J, Barkovich AJ, Dillon WP, Sherr EH, Hart KA, Packman S. T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease. AJNR. American journal of neuroradiology 2003. PMID: 12748094


  29. Takanashi J, Barkovich AJ, Cheng SF, Kostiner D, Baker JC, Packman S. Brain MR imaging in acute hyperammonemic encephalopathy arising from late-onset ornithine transcarbamylase deficiency. AJNR. American journal of neuroradiology 2003. PMID: 12637287


  30. Caldovic L, Morizono H, Panglao MG, Cheng SF, Packman S, Tuchman M. Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia. Human genetics 2003. PMID: 12594532


  31. Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WR. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Annals of internal medicine 2003. PMID: 12585833