Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy

Ophthalmic Genetics

Volumn 21, Issue 4, 2000, Pages 243-250

  Meire, F M ^a   Van Genderen, M M ^a   Lemmens, K ^a   Ens Dokkum, M H ^a  

^a Institute for the Deaf   (Netherlands)

Author keywords

Cone rod dystrophy; Differential diagnosis; Retinal dystrophy; Review; Thiamine responsive megaloblastic anemia

Indexed keywords

THIAMINE;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARDIOMYOPATHY; CASE REPORT; CHROMOSOME 1Q; CLINICAL FEATURE; DIABETES MELLITUS; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; ELECTRORETINOGRAPHY; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; HUMAN; OPTIC NERVE ATROPHY; PEARSON SYNDROME; PERCEPTION DEAFNESS; PRIORITY JOURNAL; RETINA CONE ROD DYSTROPHY; RETINA DYSTROPHY; SYNDROME; THIAMINE RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME;

ADOLESCENT; ANEMIA, MEGALOBLASTIC; DIAGNOSIS, DIFFERENTIAL; ELECTRORETINOGRAPHY; FEMALE; HUMANS; PHOTORECEPTORS, VERTEBRATE; RETINAL DEGENERATION; SYNDROME; THIAMINE;

EID: 0034489239     PISSN: 13816810     EISSN: None     Source Type: Journal    
DOI: 10.1076/1381-6810(200012)21:4;1-H;FT243     Document Type: Article

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