Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip

Human Mutation

Volumn 33, Issue 3, 2012, Pages 485-487

  Thiel, Christian ^a   Rind, Nina ^a   Popovici, Diana ^a   Hoffmann, Georg F ^a   Hanson, Kristen ^b   Conway, Robert L ^b   Adamski, Craig R ^b   Butler, Elizabeth ^c   Scanlon, Rhonda ^b   Lambert, Marie ^d   Apeshiotis, Neophytos ^e   Thiels, Charlotte ^f   Matthijs, Gert ^g   Körner, Christian ^a  

^a Center for Metabolic Diseases Heidelberg   (Germany)

^b MICHIGAN STATE UNIVERSITY   (United States)

^c GENEDX   (United States)

^d UNIVERSITY OF MONTREAL   (Canada)

^e Praxis für Humangenetik ^*  (Germany)

^f ST JOSEF HOSPITAL   (Germany)

^g UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

ALG11 CDG; CDG Ip; Congenital disorders of glycosylation; Glycoprotein biosynthesis; N glycosylation

Indexed keywords

ALPHA 1,2 MANNOSYLTRANSFERASE; COMPLEMENTARY DNA; MANNOSYLTRANSFERASE; OLIGOSACCHARIDE; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CASE REPORT; CHILD; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1P; CONVERGENT STRABISMUS; DIAGNOSTIC PROCEDURE; FEMALE; GENE MUTATION; GROWTH RETARDATION; HUMAN; MALE; MENTAL DEFICIENCY; METABOLISM; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SCHOOL CHILD; SEIZURE;

CHILD; CHILD, PRESCHOOL; CONGENITAL DISORDERS OF GLYCOSYLATION; DOLICHOL; FEMALE; GLYCOSYLATION; HUMANS; MALE; MANNOSYLTRANSFERASES; OLIGOSACCHARIDES;

EID: 84857063992     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22019     Document Type: Article

References (12)

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