Niemann Pick diseases in adults;Les maladies de Niemann-Pick de l'adulte

Revue de Medecine Interne

Volumn 28, Issue SUPPL. 4, 2007, Pages

  Sedel, F ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Niemann Pick disease

Indexed keywords

GLYCOLIPID; MIGLUSTAT;

ARTICLE; CHOLESTEROL BLOOD LEVEL; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DISEASE COURSE; HEPATOSPLENOMEGALY; HUMAN; HYPERLIPIDEMIA; NIEMANN PICK DISEASE; PHENOTYPE;

1-DEOXYNOJIRIMYCIN; ADULT; ALPHA-GLUCOSIDASES; CARRIER PROTEINS; ENZYME INHIBITORS; GLYCOPROTEINS; HUMANS; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; NIEMANN-PICK DISEASE, TYPE B; NIEMANN-PICK DISEASE, TYPE C; SPHINGOMYELIN PHOSPHODIESTERASE;

EID: 36148947112     PISSN: 02488663     EISSN: 17683122     Source Type: Journal    
DOI: 10.1016/j.revmed.2007.09.017     Document Type: Article

References (4)

1. Sedel F, Turpin JC, Baumann N. Neurological presentations of lysosomal diseases in adults. Rev Neurol (Paris). Sous presse.
2. Vanier M.T., and Millat G. Niemann-Pick disease type C. Clin Genet 64 (2003) 269-281
3. Sevin M., Lesca G., Baumann N., Millat G., Lyon-Caen O., Vanier M.T., et al. The adult form of Niemann-Pick disease type C. Brain 130 (2007) 120-133
4. Wasserstein M.P., Aron A., Brodie S.E., Simonaro C., Desnick R.J., and McGovern M.M. Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. J Pediatr 149 (2006) 554-559