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2013, ISBN 0444595651, Volume 113
The Niemann–Pick disease group is now divided into two distinct entities: (1) acid sphingomyelinase-deficient Niemann–Pick disease (ASM-deficient NPD)... 
Niemann-Pick Diseases - diagnosis | Phenotype | Mutation | Niemann-Pick Diseases - metabolism | Niemann-Pick Diseases - genetics | Humans
Book Chapter
BBA - Molecular Cell Research, ISSN 0167-4889, 2009, Volume 1793, Issue 4, pp. 726 - 736
Journal Article
Handbook of Clinical Neurology, ISSN 0072-9752, 2013, Volume 113, pp. 1695 - 1699
This chapter summarizes our current knowledge of lysosomes and lysosomal proteins referring to recent reviews, general schemes for degradation of substrates,... 
Genetic Testing | Lysosomes - metabolism | Humans | Lysosomes - genetics | Genotype | Lysosomal Storage Diseases, Nervous System - metabolism | Genetic Counseling | Lysosomal Storage Diseases, Nervous System - genetics | Lysosomal Storage Diseases, Nervous System - diagnosis
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2009, Volume 4, Issue 9, p. e6951
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 07/2012, Volume 106, Issue 3, pp. 330 - 344
Journal Article