Results 121 to 127 of about 458 (127)

A Novel Mutation in the SLC19A2 Gene in a Turkish Female With Thiamine-Responsive Megaloblastic Anemia Syndrome.

Journal of Tropical Pediatrics, 2009
Zühre Kaya, Ediz Yeşilkaya, Altuğ Koç   +2 more
exaly  

Leber’s Congenital Amaurosis as the Retinal Degenerative Phenotype in Thiamine Responsive Megaloblastic Anemia: A Case Report

Ophthalmic Genetics, 2014
Nagasamy Soumittra, Kaushik Murali
exaly  

Thiamine-Responsive Megaloblastic Anemia Syndrome With Ebstein Anomaly: A Case Report

European Journal of Pediatrics, 2014
Mohammad Taghi Akbari, Shohreh Zare Karizi, Bijan Keikhaei   +2 more
exaly  

Novel Mutation in the SLC19A2 Gene in an African-American Female With Thiamine-Responsive Megaloblastic Anemia Syndrome

American Journal of Medical Genetics, Part A, 2004
Billie M Moats-Staats, Ali S Calikoglu, Louis E Underwood   +2 more
exaly  

Thiamine Responsive Megaloblastic Anemia: A Novel SLC19A2 Compound Heterozygous Mutation in Two Siblings

Pediatric Diabetes, 2013
Sian Ellard, Enza Mozzillo, Sarah Flanagan   +2 more
exaly  

The Spectrum of Mutations, Including Four Novel Ones, in the Thiamine-Responsive Megaloblastic Anemia Gene SLC19A2 of Eight Families

Human Mutation, 2000
Marcos Borato Viana, Hanna Mandel, Jean-Michel Cayuela   +2 more
exaly  

Thiamine-Responsive Megaloblastic Anemia.

Nutrition Reviews, 1980
exaly