Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG

Journal of Inherited Metabolic Disease

Volumn 36, Issue 6, 2013, Pages 1039-1047

  Thompson, Dorothy A ^a   Lyons, Ruth J ^a   Russell Eggitt, Isabelle ^a   Liasis, Alki ^a   Jägle, Herbert ^b   Grünewald, Stephanie ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY HOSPITAL REGENSBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOPROTEIN; N GLYCOPROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; B WAVE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; ELECTRORETINOGRAM; EVOKED VISUAL RESPONSE; FAILURE TO THRIVE; HUMAN; INFANT; OSCILLATORY POTENTIAL; PATIENT REFERRAL; PHOTORECEPTOR; PRESCHOOL CHILD; RETINA DISEASE; RETROSPECTIVE STUDY; SCHOOL CHILD; SIBLING;

ADOLESCENT; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CONGENITAL DISORDERS OF GLYCOSYLATION; ELECTRORETINOGRAPHY; HUMANS; INFANT; MALE; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); RETINA; RETROSPECTIVE STUDIES; SIBLINGS;

EID: 84888204217     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-013-9594-2     Document Type: Article

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