Congenital disorders of glycosylation - A challenging group of IEMs

Journal of Inherited Metabolic Disease

Volumn 31, Issue 2, 2008, Pages 267-269

  Vodopiutz, J ^a   Bodamer, O A ^a  

^a ST ANNA CHILDREN S HOSPITAL   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCAN; MANNOSE; TRANSFERRIN;

BLOOD CLOTTING DISORDER; BODY DYSMORPHIC DISORDER; CARBOHYDRATE SYNTHESIS; CLINICAL FEATURE; CONFERENCE PAPER; CONGENITAL DISORDER OF GLYCOSYLATION; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1B; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1F; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2F; DIAGNOSTIC TEST; DISEASE CLASSIFICATION; DISEASE SEVERITY; ENDOCRINE DISEASE; ENZYME ASSAY; EYE MOVEMENT DISORDER; GASTROINTESTINAL SYMPTOM; GENETIC DISORDER; GROWTH RETARDATION; HUMAN; ICHTHYOSIS; LINKAGE ANALYSIS; MUSCULAR DYSTROPHY; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; NIPPLE MALFORMATION; PRENATAL DIAGNOSIS; PROTEIN LOSING GASTROENTEROPATHY; RETINITIS PIGMENTOSA; THROMBOCYTOPENIA; TRANSFERRIN BLOOD LEVEL;

ANIMALS; CONGENITAL DISORDERS OF GLYCOSYLATION; GENETIC PREDISPOSITION TO DISEASE; GLYCOSYLATION; HUMANS; PHENOTYPE; PROGNOSIS; PROTEIN PROCESSING, POST-TRANSLATIONAL;

EID: 43149109939     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-0849-2     Document Type: Conference Paper

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