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