Diagnostic dilemma's: The congenital disorders of glycosylation are clinical chameleons

European Journal of Human Genetics

Volumn 16, Issue 1, 2008, Pages 2-4

  Coman, David J ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN C3;

ATAXIA; BLOOD CLOTTING DISORDER; BONE DEFECT; CARDIOMYOPATHY; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1D; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1F; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2; CUTIS LAXA; DIAGNOSTIC ERROR; DIAGNOSTIC VALUE; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; EHLERS DANLOS SYNDROME; ENDOCRINE DISEASE; FAILURE TO THRIVE; FETUS HYDROPS; GENETIC COUNSELING; HUMAN; INTELLECTUAL IMPAIRMENT; KIDNEY DYSFUNCTION; LIVER DYSFUNCTION; MICROGYRIA; MUSCLE EYE BRAIN DISEASE; NOTE; PACHYGYRIA; PERICARDIAL EFFUSION; PHENOTYPE; PRIORITY JOURNAL; RETINOPATHY; SEIZURE; WALKER WARBURG SYNDROME;

CUTIS LAXA; GENES, RECESSIVE; GLYCOSYLATION; HUMANS; METABOLISM, INBORN ERRORS; PHENOTYPE;

CHAMAELEONIDAE;

EID: 37249005221     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201962     Document Type: Note

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