Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child.

Journal of inherited metabolic disease

Volumn 30, Issue 6, 2007, Pages 986-

  Fotoulaki, M ^a   Schuchman, E H ^a   Simonaro, C M ^a   Augoustides Savvopoulou, P ^a   Michelakakis, H ^a   Panagopoulou, P ^a   Varlamis, G ^a   Nousia Arvanitakis, S ^a  

^a ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE; CHITOTRIOSIDASE; CHOLESTEROL; SPHINGOMYELIN PHOSPHODIESTERASE;

ARTICLE; BLOOD; CASE REPORT; CHILD; COMPUTER ASSISTED TOMOGRAPHY; ENZYMOLOGY; FIBROBLAST; GREECE; HEART MUSCLE; HUMAN; LUNG; LYSOSOME; MALE; METABOLISM; METHODOLOGY; MUTATION; NEUROLOGIC DISEASE; NIEMANN PICK DISEASE; NUCLEOTIDE SEQUENCE;

CHILD; CHOLESTEROL; DNA MUTATIONAL ANALYSIS; FIBROBLASTS; GREECE; HEXOSAMINIDASES; HUMANS; LUNG; LYSOSOMES; MALE; MUTATION; MYOCARDIUM; NERVOUS SYSTEM DISEASES; NIEMANN-PICK DISEASES; SPHINGOMYELIN PHOSPHODIESTERASE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 38449098425     PISSN: None     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-007-0557-3     Document Type: Article

References (0)