The natural history of retinal degeneration in association with cobalamin C (cbl C) disease

Ophthalmic Genetics

Volumn 27, Issue 1, 2006, Pages 9-14

  Schimel, Andrew M ^a   Mets, Marilyn Baird ^a,b  

^a NORTHWESTERN UNIVERSITY   (United States)

^b CHILDREN'S MEMORIAL HOSPITAL   (United States)

Author keywords

cblC disease; Cobalamin C disease; Electroretinograph; Homocystinuria; Methylmalonic aciduria; Retinal degeneration

Indexed keywords

COBALAMIN;

AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; COBALAMIN C DISEASE; COURSE EVALUATION; CYANOCOBALAMIN DEFICIENCY; DISEASE COURSE; EEG ABNORMALITY; ELECTRORETINOGRAM; ELECTRORETINOGRAPHY; FAILURE TO THRIVE; FRONTAL LOBE; HUMAN; MEGALOBLASTIC ANEMIA; NYSTAGMUS; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; REVIEW; SKIN FIBROBLAST; TREATMENT OUTCOME; VITAMIN SUPPLEMENTATION;

ELECTRORETINOGRAPHY; FEMALE; HUMANS; INFANT, NEWBORN; RETINA; RETINAL DEGENERATION; VITAMIN B 12; VITAMIN B 12 DEFICIENCY;

EID: 33645097806     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810500481758     Document Type: Review

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