A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences.
    

concept

(1) Pulmonary leiomyometosis (infiltration of bronchi and lungs) with intense secondary polycythaemia. Sarcomatous

Stomach, bowels and kidneys ephemera. Box 1.

Niemann-Pick disease : a genetic disorder / Niemann-Pick Disease Group (UK).

Leah's dream.

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Niemann-Pick Diseases

Catalogue

(1) Pulmonary leiomyometosis (infiltration of bronchi and lungs) with intense secondary polycythaemia. Sarcomatous

Stomach, bowels and kidneys ephemera. Box 1.

Niemann-Pick disease : a genetic disorder / Niemann-Pick Disease Group (UK).

Leah's dream.