Keeping an eye on congenital disorders of O-glycosylation: A systematic literature review

Journal of Inherited Metabolic Disease

Volumn 42, Issue 1, 2019, Pages 29-48

  Francisco, Rita ^a,b,c   Pascoal, Carlota ^a,b,c   Marques da Silva, Dorinda ^a,b,c   Morava, Eva ^c,d   Gole, Glen A ^c,e   Coman, David ^c,f   Jaeken, Jaak ^c,d   dos Reis Ferreira, Vanessa ^b,c  

^a UNIVERSIDADE NOVA DE LISBOA   (Portugal)

^b Portuguese Association for Congenital Disorders of Glycosylation (CDG)   (Portugal)

^c CDG Allies Professionals and Patient Associations International Network (CDG Allies PPAIN)   (Portugal)

^d UNIVERSITY OF LEUVEN   (Belgium)

^e UNIVERSITY OF QUEENSLAND   (Australia)

^f LADY CILENTO CHILDREN S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

BETA 1,3 GALACTOSYLTRANSFERASE; FUCOSYLTRANSFERASE; FUKUTIN RELATED PROTEIN; GALACTOSYLTRANSFERASE; GLUCURONOSYLTRANSFERASE; GLYCOSYLTRANSFERASE; ISOPRENOID SYNTHASE; MANNOSYLTRANSFERASE; MEMBRANE PROTEIN; MESSENGER RNA; MUCIN; N ACETYLGALACTOSAMINE; N ACETYLGALACTOSAMINYLTRANSFERASE; N ACETYLGLUCOSAMINYLTRANSFERASE; SYNTHETASE; TRANSFERASE; TRANSMEMBRANE PROTEIN 5; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE; XYLOSYLTRANSFERASE 2;

BLINDNESS; CATARACT; CONGENITAL DISORDER OF GLYCOSYLATION; CORNEA DISEASE; DIAGNOSTIC PROCEDURE; DISEASE SEVERITY; EXOPHTHALMOS; EYE DISEASE; EYE MALFORMATION; GENE MUTATION; GLAUCOMA; GLYCOSYLATION; HUMAN; INCIDENCE; MEDICAL RESEARCH; MOLECULAR MECHANICS; PHENOTYPIC VARIATION; REVIEW; SYSTEMATIC REVIEW; ANIMAL; PATHOLOGY;

ANIMALS; CONGENITAL DISORDERS OF GLYCOSYLATION; EYE DISEASES; GLYCOSYLATION; HUMANS;

EID: 85061240215     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1002/jimd.12025     Document Type: Review

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