I-cell disease presenting with severe hypophosphatemia and cardiomyopathy

Neuropediatrics

Volumn 31, Issue 1, 2000, Pages 49-50

  Bocca, G ^a   Noordam, C ^a   Wevers, R A ^a   De Jong, J G N ^a   Van der Meer, W ^a   De Keijzer, M H ^a   Korver, C R W ^a   Smeitink, J A M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

LYSOSOME ENZYME; N ACETYLGLUCOSAMINYLTRANSFERASE;

CARDIOMYOPATHY; CASE REPORT; CELL INCLUSION; CELL VACUOLE; CLINICAL FEATURE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; FIBROBLAST CULTURE; HUMAN; HUMAN CELL; HYPOPHOSPHATEMIA; INFANT; LETTER; LYSOSOME STORAGE DISEASE; MUCOLIPIDOSIS TYPE 2; PRIORITY JOURNAL;

CARDIOMYOPATHIES; FEMALE; HUMANS; HYPOPHOSPHATEMIA; INFANT; MUCOLIPIDOSES; PHENOTYPE; TRANSFERASES (OTHER SUBSTITUTED PHOSPHATE GROUPS);

EID: 0034100890     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2000-15300     Document Type: Letter

References (4)