Article

Consensus clinical management guidelines for Acid Sphingomyelinase Deficiency (Niemann-Pick disease types A, B and A/B)

2022-12-19

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Acid sphingomyelinase deficiency (ASMD) is a rare autosomal recessive disorder caused by mutations in <italic>SMPD1</italic> gene. This rarity contributes to misdiagnosis, delayed diagnosis and barriers to good care. There is no published national or international guideline for diagnosis and management of patients with ASMD. For these reasons, we at INPDR have d...

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Literature Corpus work: c489df04-e725-5884-9c8e-426dbe03bab9
DOI: 10.21203/rs.3.rs-2206440/v1

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