Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation

Expert Review of Molecular Diagnostics

Volumn 14, Issue 2, 2014, Pages 217-224

  Wolthuis, David Fgj ^a,b   Janssen, Miriam C ^b   Cassiman, David ^c   Lefeber, Dirk J ^b   Morava Kozicz, Eva ^a  

^a TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

adult metabolic disease; ataxia; cataract; CDG; N linked glycosylation; scoliosis; thrombosis

Indexed keywords

ABNORMALITIES, MULTIPLE; ADULT; ATAXIA; CATARACT; CONGENITAL DISORDERS OF GLYCOSYLATION; FEMALE; GLYCOSYLATION; HUMANS; MALE; PHENOTYPE; SCOLIOSIS; THROMBOSIS; YOUNG ADULT;

EID: 84894528563     PISSN: 14737159     EISSN: 17448352     Source Type: Journal    
DOI: 10.1586/14737159.2014.890052     Document Type: Review

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