Improving Diagnosis and Clinical Monitoring of Acid Sphingomyelinase Deficiency

Auteur(s): Annenberg Center for Health Sciences
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  • Résumé

  • Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disorder that causes accumulation of sphingomyelin in various organs. In addition to a low incidence, ASMD has a heterogeneous presentation that makes management challenging. Join experts Margaret McGovern, MD, PhD, and Pramod Mistry, MD, PhD, in this review of the diagnosis and treatment of patients with ASMD.
    Annenberg Center for Health Sciences
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Hygiene & Healthy Living Troubles et maladies
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Épisodes
  • Emerging Therapies: Efficacy and Safety Data from Phase 3 Trials

    Emerging Therapies: Efficacy and Safety Data from Phase 3 Trials
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    • Overview of olipudase alfa
    • Efficacy and safety of olipudase alfa from phase 2 and 3 trials
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    27 min
  • Clinical Management and Treatment Monitoring Part 2

    Clinical Management and Treatment Monitoring Part 2
    May 26 2022
    • Surveillance recommendations for patients with ASMD
    • Ongoing symptomatic management and support
    • Role of liver transplantation
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    11 min
  • Clinical Management and Treatment Monitoring Part 1

    Clinical Management and Treatment Monitoring Part 1
    May 26 2022
    • Initial evaluation and management of ASMD
    • Clinical trial enrollment
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    4 min

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