Browse Items (3 total)

Newborn screening has evolved to include an increasingly complex spectrum of diseases, raising concerns that screening should be optional and require parental consent. Early detection of disorders like PKU and MCAD is essential to prevent serious…

OBJECTIVES: Type B Niemann-Pick disease (NPD-B) caused by acid sphingomyelinase deficiency is a rare, autosomal recessive, lysosomal storage disorder with a broad range of disease severity. The objectives of this study were to document the natural…

OBJECTIVE: To describe the disease course and natural history of Type A Niemann-Pick disease (NPD). METHODS: Ten patients with NPD-A (six male, four female; age range at entry: 3 to 6 months) were serially evaluated including clinical neurologic,…
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