Lysosomal Sphingomyelinase 1053

نویسندگان

  • Marianne DREISSEN
  • Elisabeth M. BROUWER-KELDER
چکیده

ISection for Medical Enzymology and Metabolism, Laboratory of Biochemistry, University of Amsterdam, P.O. Box 20151, 1000 lid Amsterdam, The Netherlands; 2Institute of Organic Chemistry and Biochemistry, University of Bonn, Gerhard-Domagkstrasse i, D-5300 Bonn, Federal Republic of Germany; and 3Developmental and Metabolic Neurology Branch, National Institute of Neurological and Communicative Diseases and Stroke, National Institutes of Health, Bethesda, MD 20205, U.S.A.

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Background & Aims: Niemann-Pick disease (NPD) types A and B are rare autosomal recessive disorders that occur due to mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, which result in the deficiency or shortage of lysosomal acid sphingomyelinase (ASM) activity. The disorder is characterized by the accumulation of sphingomyelin in the endolysosomal sections, and patients often ...

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تاریخ انتشار 2005