A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations

Neuropediatrics

Volumn 32, Issue 6, 2001, Pages 313-318

  Assmann, B ^a   Hackler, R ^a   Peters, V ^a   Schaefer, J R ^a   Arndt, T ^a   Mayatepek, E ^a   Jaeken, J ^a   Hoffmann, G F ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

Carbohydrate deficient glycoprotein syndrome; Carbohydrate deficient transferrin; CDG; Congenital disorders of glycosylation; IEF; Isoelectric focusing

Indexed keywords

ASIALOTRANSFERRIN; MANNOSE; TRANSFERRIN; UNCLASSIFIED DRUG;

ARTICLE; ATAXIA; CASE REPORT; CLINICAL EXAMINATION; CONGENITAL DISORDER OF GLYCOSYLATION; HUMAN; ISOELECTRIC FOCUSING; LIVER BIOPSY; MALE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; STRABISMUS; SYNDROME DELINEATION; TRANSFERRIN BLOOD LEVEL;

ASIALOGLYCOPROTEINS; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CHILD, PRESCHOOL; CONSANGUINITY; DIAGNOSIS, DIFFERENTIAL; HUMANS; ISOELECTRIC FOCUSING; MALE; MENTAL RETARDATION; PSYCHOMOTOR DISORDERS; TRANSFERRIN;

EID: 0035714276     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2001-20407     Document Type: Article

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