Retinal on-pathway deficit in congenital disorder of glycosylation due to phosphomannomutase deficiency

Archives of Ophthalmology

Volumn 130, Issue 6, 2012, Pages 712-719

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

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b UNIVERSITY HOSPITAL REGENSBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHOMANNOMUTASE;

A WAVE; ADOLESCENT; ARTICLE; B WAVE; CASE REPORT; CONTROLLED STUDY; DEPOLARIZATION; ELECTRORETINOGRAPHY; ENZYME DEFICIENCY; GLYCOSYLATION; HUMAN; MALE; MUTATIONAL ANALYSIS; OSCILLATORY POTENTIAL; PHOSPHOMANNOMUTASE DEFICIENCY; PRIORITY JOURNAL;

ADOLESCENT; COLOR VISION; CONGENITAL DISORDERS OF GLYCOSYLATION; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; GLYCOSYLATION; HUMANS; MALE; NIGHT VISION; OSCILLOMETRY; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); PHOTIC STIMULATION; POINT MUTATION; RETINA; RETINAL DISEASES; SIBLINGS; VISUAL ACUITY;

EID: 84862239477     PISSN: 00039950     EISSN: 15383601     Source Type: Journal    
DOI: 10.1001/archophthalmol.2012.130     Document Type: Article

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