Congenital disorders of glycosylation (CDG): It's (nearly) all in it!

Journal of Inherited Metabolic Disease

Volumn 34, Issue 4, 2011, Pages 853-858

  Jaeken, Jaak ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; APOLIPOPROTEIN C3; BIOLOGICAL MARKER; BUTYRIC ACID; CONSERVED OLIGOMERIC GOLGI COMPLEX 1; CONSERVED OLIGOMERIC GOLGI COMPLEX 4; CONSERVED OLIGOMERIC GOLGI COMPLEX 5; CONSERVED OLIGOMERIC GOLGI COMPLEX 6; CONSERVED OLIGOMERIC GOLGI COMPLEX 7; FUCOSE; MANNOSE; MANNOSYLTRANSFERASE; OXIDOREDUCTASE; PROTEIN RFT1; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; STEROID 5ALPHA REDUCTASE 3; TRANSFERRIN; UNCLASSIFIED DRUG;

ATP6V0A2 GENE; AUTOSOMAL DOMINANT DISORDER; BODY DYSMORPHIC DISORDER; BRAIN ATROPHY; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE 2; CUTIS LAXA; DIAGNOSTIC TEST; DISEASE CLASSIFICATION; EPILEPSY; FAILURE TO THRIVE; FEEDING DISORDER; GENE MUTATION; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; HYPOPITUITARISM; ISOELECTRIC FOCUSING; LETHALITY; MARKER GENE; MENTAL DEFICIENCY; MICROCEPHALY; MUSCLE HYPOTONIA; NOMENCLATURE; PERCEPTION DEAFNESS; PIGM GENE; PROTEIN BLOOD LEVEL; PSYCHOMOTOR RETARDATION; RESPIRATORY TRACT DISEASE; REVIEW; SEC23B GENE; SKIN DISEASE; VEIN THROMBOSIS; X CHROMOSOME LINKED DISORDER;

CARBOHYDRATE METABOLISM, INBORN ERRORS; CARBOHYDRATE SEQUENCE; CONGENITAL DISORDERS OF GLYCOSYLATION; DIAGNOSIS, DIFFERENTIAL; GLYCOSYLATION; HUMANS; MODELS, BIOLOGICAL; TERMINOLOGY AS TOPIC;

EID: 79961167779     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9299-3     Document Type: Review

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