Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (Cblc) disease: A spectrum of disorders

Klinische Monatsblatter fur Augenheilkunde

Volumn 225, Issue 5, 2008, Pages 491-494

  Gaillard, M C ^a   Matthieu, J M ^b   Borruat, F X ^a  

^a HÔPITAL OPHTALMIQUE JULES GONIN   (Switzerland)

^b LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

CblC; Cobalamin; ERG; Methylmalonic aciduria and homocystinuria disease; Retina

Indexed keywords

BETAINE; COBALAMIN; FOLIC ACID;

ADOLESCENT; ARTICLE; CASE REPORT; COMBINED METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA; CONVERGENT STRABISMUS; ELECTRORETINOGRAM; EYE EXAMINATION; FEMALE; GENERAL ANESTHESIA; HOMOCYSTINURIA; HUMAN; MALE; METABOLIC REGULATION; METHYLMALONIC ACIDURIA; NYSTAGMUS; OPHTHALMOSCOPY; PRESCHOOL CHILD; RETINA CONE; RETINA DISEASE; RETINA MACULOPATHY; RETINA ROD; SLIT LAMP;

ADOLESCENT; CHILD, PRESCHOOL; FEMALE; HOMOCYSTINURIA; HUMANS; INFANT; MACULAR DEGENERATION; MALE; METABOLISM, INBORN ERRORS; METHYLMALONIC ACID;

EID: 47649098750     PISSN: 00232165     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2008-1027310     Document Type: Article

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