Listar por tema "Niemann-Pick disease types A and B"
Mostrando ítems 1-1 de 1
-
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency
(2017) [Artículo de periódico]Background: Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and often fatal lysosomal storage disease. The underlying metabolic defect is deficiency of the enzyme acid sphingomyelinase that results in ...