Congenital disorder of glycosylation-1c: Case report and genetic defect

Neuropediatrics

Volumn 31, Issue 2, 2000, Pages 60-62

  Hanefeld, F ^a   Korner C ^a   Holzbach Eberle, Ulrike ^a   Von Figura, K ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

Author keywords

CDG; Dol P Glc:Man9GlcNAc2 PP Dol glucosyltransferase

Indexed keywords

GLUCOSYLTRANSFERASE;

ARTICLE; CASE REPORT; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; DISEASE COURSE; DNA SEQUENCE; DYSTONIA; ENZYME DEFICIENCY; FEMALE; GENE DELETION; HUMAN; HUMAN CELL; MOLECULAR GENETICS; MUSCLE HYPOTONIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

BRAIN; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CHILD, PRESCHOOL; CHROMOSOME DELETION; DNA, COMPLEMENTARY; FEMALE; GLUCOSYLTRANSFERASES; HUMANS; ISOLEUCINE; MAGNETIC RESONANCE IMAGING; PHENOTYPE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 0034102585     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2000-7486     Document Type: Article

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