Congenital disorders of glycosylation: Review of their molecular bases, clinical presentations and specific therapies

European Journal of Pediatrics

Volumn 162, Issue 6, 2003, Pages 359-379

  Marquardt, T ^a   Denecke, J ^a  

^a UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

CDA II; CDG; Glycosylation; HEMPAS; LAD II

Indexed keywords

FUCOSE; GLYCAN; GLYCOCONJUGATE; MANNOSE;

BIOCHEMISTRY; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; CONGENITAL DISORDERS OF GLYCOSYLATION; DIAGNOSTIC PROCEDURE; DIARRHEA; DISEASE CLASSIFICATION; ERYTHROCYTE; GLYCOSYLATION; HEREDITARY HEMOLYTIC ANEMIA; HUMAN; INBORN ERROR OF METABOLISM; PRIORITY JOURNAL; REVIEW; SCREENING TEST;

EID: 0037605951     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-002-1136-0     Document Type: Review

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