Types A and B Niemann-Pick disease

Best Practice and Research: Clinical Endocrinology and Metabolism

Volumn 29, Issue 2, 2015, Pages 237-247

  Schuchman, Edward H ^a   Wasserstein, Melissa P ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

acid Sphingomyelinase; enzyme replacement therapy; mouse model; Niemann Pick; sphingomyelin

Indexed keywords

CHOLESTEROL; RECOMBINANT ACID SPHINGOMYELINASE; RECOMBINANT ENZYME; SPHINGOMYELIN PHOSPHODIESTERASE; UNCLASSIFIED DRUG;

ADULTHOOD; CENTRAL NERVOUS SYSTEM DISEASE; CHOLESTEROL METABOLISM; CHOLESTEROL TRANSPORT; DISEASE COURSE; DISEASE SEVERITY; ENZYME REPLACEMENT; GENE MUTATION; HEPATOSPLENOMEGALY; HUMAN; INTRACELLULAR TRANSPORT; LUNG DISEASE; MOLECULAR GENETICS; MUTATOR GENE; NIEMANN PICK DISEASE; NONHUMAN; ONSET AGE; PHENOTYPE; REVIEW; SMPD1 GENE; SURVIVAL; BONE MARROW TRANSPLANTATION; CENTRAL NERVOUS SYSTEM DISEASES; COMPLICATION; GENETICS; HEPATOMEGALY; LUNG DISEASES; METABOLISM; NIEMANN-PICK DISEASE, TYPE A; NIEMANN-PICK DISEASE, TYPE B; SPLENOMEGALY;

BONE MARROW TRANSPLANTATION; CENTRAL NERVOUS SYSTEM DISEASES; ENZYME REPLACEMENT THERAPY; HEPATOMEGALY; HUMANS; LUNG DISEASES; NIEMANN-PICK DISEASE, TYPE A; NIEMANN-PICK DISEASE, TYPE B; PHENOTYPE; SPHINGOMYELIN PHOSPHODIESTERASE; SPLENOMEGALY;

EID: 84929511902     PISSN: 1521690X     EISSN: 15321908     Source Type: Journal    
DOI: 10.1016/j.beem.2014.10.002     Document Type: Review

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