Article
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).
Orphanet journal of rare diseases - 17 Apr 2023
Geberhiwot Tarekegn, Wasserstein Melissa, Wanninayake Subadra, Bolton Shaun Christopher, Dardis Andrea, Lehman Anna, Lidove Olivier, Dawson Charlotte, Giugliani Roberto, Imrie Jackie, Hopkin Justin, Green James, de Vicente Corbeira Daniel, Madathil Shyam, Mengel Eugen, Ezgü Fatih, Pettazzoni Magali, Sjouke Barbara, Hollak Carla, Vanier Marie T, McGovern Margaret, Schuchman Edward
Abstract excerpt
BACKGROUND: Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal recessive disorder caused by mutations in the SMPD1 gene. This rarity contributes to misdiagnosis, delayed diagnosis and barriers to good care. There are no published national or international consensus guidelines for the diagnosis and management of patients with ASMD. For these reasons, we have developed clinical guidelines that defines...
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