Congenital disorder of glycosylation IId (CDG-IId) - A new entity: Clinical presentation with Dandy-Walker malformation and myopathy

Neuropediatrics

Volumn 33, Issue 1, 2002, Pages 27-32

  Peters, Verena ^a   Penzien, J M ^a   Reiter, G ^a   Korner C ^a   Hackler, R ^a   Assmann, B ^a   Fang, J ^a   Schaefer, J R ^a   Hoffmann, G F ^a   Heidemann, P H ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

CDG; Congenital Disorders of Glycosylation; Dandy Walker Malformation; Isoelectric Focusing; Myopathy; Transferrin; 1 Antitrypsin; 1 Antichymotrypsin

Indexed keywords

ALPHA 1 ANTICHYMOTRYPSIN; ALPHA 1 ANTITRYPSIN; CREATINE KINASE; GALACTOSYLTRANSFERASE; TRANSFERRIN;

ARTICLE; BLOOD CLOTTING DISORDER; CASE REPORT; CHOLESTASIS; CONGENITAL DISORDER OF GLYCOSYLATION; DANDY WALKER SYNDROME; ELECTROPHORESIS; ENZYME ACTIVITY; ENZYME ANALYSIS; GENE MUTATION; GLYCOSYLATION; HOMOZYGOSITY; HUMAN; HYDROCEPHALUS; ISOELECTRIC FOCUSING; MALE; MUSCLE HYPOTONIA; MYOPATHY; PRESCHOOL CHILD; PRIORITY JOURNAL; TRANSFERRIN BLOOD LEVEL;

EID: 0036208301     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2002-23597     Document Type: Article

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