Etiology of vision loss in ganglioside GM3 synthase deficiency

Ophthalmic Genetics

Volumn 27, Issue 3, 2006, Pages 89-91

  Farukhi, Fahhad ^a   Dakkouri, Claudia ^b   Wang, Heng ^c   Wiztnitzer, Max ^d   Traboulsi, Elias I ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

^b Alcona Health Clinic   (United States)

^c DDC Clinic   (United States)

^d UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

Author keywords

GM3 synthase deficiency; Optic atrophy; Retinal function; Vision loss

Indexed keywords

GANGLIOSIDE GM3 SYNTHASE; SYNTHETASE; UNCLASSIFIED DRUG;

AMISH; AMPLITUDE MODULATION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; ELECTRORETINOGRAPHY; ENZYME DEFICIENCY; FEMALE; GANGLIOSIDE GM3 SYNTHASE DEFICIENCY; GENETIC ANALYSIS; HUMAN; INHERITANCE; MALE; MOLECULAR GENETICS; OPHTHALMOSCOPY; OPTIC NERVE ATROPHY; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DEGENERATION; SCHOOL CHILD; VISUAL IMPAIRMENT;

ADOLESCENT; BLINDNESS; BRAIN DISEASES; CHILD; DEVELOPMENTAL DISABILITIES; ELECTRORETINOGRAPHY; EPILEPSY; FEMALE; GENES, RECESSIVE; HUMANS; INFANT; MALE; OPHTHALMOSCOPY; OPTIC NERVE DISEASES; PEDIGREE; RETINA; SIALYLTRANSFERASES;

EID: 33749531579     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810600862626     Document Type: Article

References (5)

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