Browsing by Subject "Niemann-Pick disease types A and B"
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Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency
(2017) [Journal article]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 ...