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  • Leber's congenital amaurosis as the retinal degenerative phenotype in thiamine responsive megaloblastic anemia: a case report.

Leber's congenital amaurosis as the retinal degenerative phenotype in thiamine responsive megaloblastic anemia: a case report.

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2014 Jun Case Reports Fist_Author_Year_PM

Full Author : ['Srikrupa, Natarajan N', 'Meenakshi, Swaminathan', 'Arokiasamy, Tharigopala', 'Murali, Kaushik', 'Soumittra, Nagasamy']
Journal Title : Ophthalmic genetics
Chapter : Section3
Journal Year : 2014
Cited by : Not Available

BACKGROUND: Thiamine responsive megaloblastic anemia syndrome (TRMA), an autosomal recessive disorder is caused by mutations in the SLC19A2 gene which encodes for thiamine transporter 1 (THTR1) protein. TRMA presents with a triad of clinical features that.....

Keywords : ["thiamine responsive megaloblastic anemia", "retinal degenerative phenotype", "leber congenital amaurosis", "case report"]