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Niemann-Pick Disease

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Atlas of Genetic Diagnosis and Counseling
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Abstract

Niemann-Pick disease has been used to designate a heterogeneous group of autosomal recessive lysosomal lipid storage disorders (acid sphingomyelinase deficiency) (types A and B), with common features of hepatosplenomegaly and sphingomyelin storage in reticuloendothelial and parenchymal tissues, with or without neurological involvement. Niemann-Pick type C disease (NP-C) evolved from that of a sphingomyelin storage disorder to that of a cholesterol storage disorder (Pentchev et al. 1994).

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Chen, H. (2017). Niemann-Pick Disease. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_277

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_277

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  • Publisher Name: Springer, New York, NY

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