Seymour Packman, MD

M.D., 1968 - School of Medicine, Washington University
  1. Clinical outcomes after 4.5?years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results.
  2. Gaucher disease and SARS-CoV-2 infection: Emerging management challenges.
  3. Quality of life and psychological functioning of pediatric and young adult patients with Gaucher disease, type 1.
  4. 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.
  5. 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].
  6. Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial.
  7. Ocular findings in a patient with fucosidosis.
  8. Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
  9. 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.
  10. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.
  11. Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial.
  12. Health-Related Quality of Life in Patients with MPS II.
  13. Development of the intrinsic and extrinsic innervation of the gut.
  14. Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation.
  15. Living with Gaucher disease: Emotional health, psychosocial needs and concerns of individuals with Gaucher disease.
  16. 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.
  17. Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and alpha-galactosidase A activity.
  18. Psychosocial aspects of patients with Niemann-Pick disease, type B.
  19. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy.
  20. Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male.
  21. Psychosocial issues in families affected by maple syrup urine disease.
  22. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial.
  23. Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5).
  24. Pediatric malignancies. Case 2. Peripheral T-cell lymphoma in an adolescent with unsuspected Gaucher disease.
  25. Marinesco-Sjögren syndrome in a male with mild dysmorphism.
  26. Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation.
  27. Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders.
  28. T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease.
  29. Brain MR imaging in acute hyperammonemic encephalopathy arising from late-onset ornithine transcarbamylase deficiency.
  30. Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia.
  31. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy.