The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease

Journal of Inherited Metabolic Disease

Volumn 30, Issue 5, 2007, Pages 654-663

  Schuchman, Edward H ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; INTERCELLULAR ADHESION MOLECULE 1; NANOCARRIER; PARVOVIRUS VECTOR; RECOMBINANT ENZYME; RETROVIRUS VECTOR; SPHINGOMYELIN PHOSPHODIESTERASE;

ADULTHOOD; CHILD DEATH; CHROMOSOME 11; CLINICAL FEATURE; CLINICAL TRIAL; DISEASE CLASSIFICATION; DNA SCREENING; ENZYME DEFICIENCY; ENZYME REPLACEMENT; ETHNICITY; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE DETECTION; HUMAN; INCIDENCE; JEW; KNOCKOUT MOUSE; MIDDLE EAST; NEUROLOGIC DISEASE; NIEMANN PICK DISEASE; NONHUMAN; NORTH AFRICA; PATHOGENESIS; PHENOTYPE; REVIEW; SURVIVAL;

ANIMALS; BONE MARROW TRANSPLANTATION; BRONCHOALVEOLAR LAVAGE; DISEASE MODELS, ANIMAL; ENZYME INHIBITORS; GENE THERAPY; GENETIC SCREENING; GENOTYPE; HUMANS; MICE; MICE, KNOCKOUT; MUTATION; NIEMANN-PICK DISEASE, TYPE A; NIEMANN-PICK DISEASE, TYPE B; PHENOTYPE; RECOMBINANT PROTEINS; SPHINGOMYELIN PHOSPHODIESTERASE; SPLENECTOMY;

EID: 35248814255     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-007-0632-9     Document Type: Review

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