Seymour Packman
Professor Emeritus
+1 415 476-2871
+1 415 476-9976

Education and Training

M.D., 1968 School of Medicine, Washington University

Publications

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. 2019 04; 21(4):887-895.
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. 2018 Dec; 125(4):360.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.