Improving Diagnosis and Clinical Monitoring of Acid Sphingomyelinase Deficiency

著者： Annenberg Center for Health Sciences
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  • 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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あらすじ・解説

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
衛生・健康的な生活 身体的病い・疾患
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エピソード
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