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Seymour Packman, MD

TitleProfessor Emeritus
InstitutionUniversity of California San Francisco
DepartmentPediatrics
Address550 16th. Street
San Francisco CA 94158
Phone415-476-2871
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    Collapse Biography 
    Collapse Education and Training
    Washington UniversityM.D.1968School of Medicine

    Collapse Research 
    Collapse Research Activities and Funding
    GENETIC DISORDERS OF MAMMALIAN BIOTIN METABOLISM
    NIH/NIADDK R01AM031366Aug 1, 1983 - Jul 31, 1987
    Role: Principal Investigator
    PEDIATRIC CLINICAL RESEARCH CENTER
    NIH/NCRR M01RR001271Dec 1, 1981 - Mar 31, 2007
    Role: Co-Investigator
    Postdoctoral Training in Medical Genetics
    NIH/NIGMS T32GM007085Jul 1, 1975 - Jun 30, 2014
    Role: Co-Principal Investigator
    General Clinical Research Center
    NIH/NCRR M01RR000079Dec 1, 1974 - Mar 31, 2009
    Role: Co-Investigator

    Collapse ORNG Applications 
    Collapse Global Health
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    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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    1. 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. Genet Med. 2018 Sep 14. PMID: 30214072.
      View in: PubMed
    2. 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]. Mol Genet Metab. 2017 Nov 09. PMID: 29129654.
      View in: PubMed
    3. 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. Am J Hematol. 2017 Nov; 92(11):1170-1176. PMID: 28762527.
      View in: PubMed
    4. Sánchez LR, Oatts JT, Duncan JL, Packman S, Moore AT. Ocular findings in a patient with fucosidosis. Am J Ophthalmol Case Rep. 2016 Dec; 4:83-86. PMID: 29503934.
      View in: PubMed
    5. 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. N Engl J Med. 2016 Aug 11; 375(6):545-55. PMID: 27509102.
      View in: PubMed
    6. 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. Mol Genet Metab. 2016 07; 118(3):206-13. PMID: 27198631.
      View in: PubMed
    7. 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. J Med Genet. 2015 May; 52(5):353-8. PMID: 25795794; PMCID: PMC4413801.
    8. 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 Feb 17; 313(7):695-706. PMID: 25688781; PMCID: PMC4962880.
    9. 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. J Genet Couns. 2015 Aug; 24(4):635-44. PMID: 25395377.
      View in: PubMed
    10. Needham M, Packman W, Rappoport M, Quinn N, Cordova M, Macias S, Morgan C, Packman S. MPS II: adaptive behavior of patients and impact on the family system. J Genet Couns. 2014 Jun; 23(3):330-8. PMID: 24190099.
      View in: PubMed
    11. Mendelsohn BA, Mehta N, Hameed B, Pekmezci M, Packman S, Ralph J. Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation. JIMD Rep. 2014; 13:37-41. PMID: 24190800; PMCID: PMC4110326.
    12. 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. Am J Med Genet A. 2010 Aug; 152A(8):2002-10. PMID: 20635362.
      View in: PubMed
    13. 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. J Inherit Metab Dis. 2010 Dec; 33 Suppl 3:S191-8. PMID: 20431954.
      View in: PubMed
    14. 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. Eur Heart J. 2010 May; 31(9):1088-97. PMID: 20061327; PMCID: PMC2912636.
    15. Henderson SL, Packman W, Packman S. Psychosocial aspects of patients with Niemann-Pick disease, type B. Am J Med Genet A. 2009 Nov; 149A(11):2430-6. PMID: 19877061.
      View in: PubMed
    16. 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. Nephrol Dial Transplant. 2009 Jul; 24(7):2102-11. PMID: 19218538; PMCID: PMC2698092.
    17. 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. Hepatol Int. 2008 Sep; 2(3):390-4. PMID: 19669271; PMCID: PMC2716892.
    18. Packman W, Henderson SL, Mehta I, Ronen R, Danner D, Chesterman B, Packman S. Psychosocial issues in families affected by maple syrup urine disease. J Genet Couns. 2007 Dec; 16(6):799-809. PMID: 17703353.
      View in: PubMed
    19. Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M, Finkel R, Packman S, Bichet DG, Warnock DG, Desnick RJ. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med. 2007 Jan 16; 146(2):77-86. PMID: 17179052.
      View in: PubMed
    20. 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). Mol Pharmacol. 2006 Nov; 70(5):1602-11. PMID: 16931768.
      View in: PubMed
    21. 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. J Clin Oncol. 2005 Jul 20; 23(21):4792-3. PMID: 16034056.
      View in: PubMed
    22. 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. Am J Med Genet A. 2005 Mar 01; 133A(2):197-201. PMID: 15633176.
      View in: PubMed
    23. Weisstein JS, Delgado E, Steinbach LS, Hart K, Packman S. Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation. J Pediatr Orthop. 2004 Jan-Feb; 24(1):97-101. PMID: 14676543.
      View in: PubMed
    24. 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 Am J Neuroradiol. 2003 Jun-Jul; 24(6):1184-7. PMID: 12812952.
      View in: PubMed
    25. 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 Am J Neuroradiol. 2003 May; 24(5):916-21. PMID: 12748094.
      View in: PubMed
    26. 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 Am J Neuroradiol. 2003 Mar; 24(3):390-3. PMID: 12637287.
      View in: PubMed
    27. 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. Hum Genet. 2003 Apr; 112(4):364-8. PMID: 12594532.
      View in: PubMed
    28. 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. Ann Intern Med. 2003 Feb 18; 138(4):338-46. PMID: 12585833.
      View in: PubMed