Clinical findings in Niemann-Pick disease type B

Internal Medicine Journal

Volumn 36, Issue 2, 2006, Pages 135-136

  Mussig K ^a   Harzer, K ^a   Mayrhofer, H ^a   Krageloh Mann I ^a   Haring H U ^a   Machicao, F ^a  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

SPHINGOMYELIN PHOSPHODIESTERASE;

ADULT; ANAMNESIS; ARTICLE; BONE MARROW BIOPSY; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; ENZYME ACTIVITY; GENE MUTATION; HEPATOSPLENOMEGALY; HISTIOCYTOSIS; HUMAN; HUMAN TISSUE; LABORATORY TEST; MALE; NIEMANN PICK DISEASE; PHENOTYPE; PRIORITY JOURNAL; THROMBOCYTOPENIA;

ADULT; BONE MARROW; DIAGNOSIS, DIFFERENTIAL; DNA; HUMANS; MALE; MUTATION; NIEMANN-PICK DISEASES; SPHINGOMYELIN PHOSPHODIESTERASE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 33344464141     PISSN: 14440903     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1445-5994.2005.01013.x     Document Type: Article

References (2)

1. Schuchmann EH, Desnick RJ. Niemann-Pick disease types A and B: acid sphingomyelinase deficiencies. In: Scriver CR, Beaudet AL, Sly WS etal. eds. The Metabolic and Molecular Basis of Inherited Disease, 8th edn. New York: McGraw-Hill; 2001; 3589-610.
2. Simonaro CM, Desnick RJ, McGovern MM, Wasserstein MP, Schuchman EH. The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. Am J Hum Genet 2002; 71: 1413-9.