Results 141 to 150 of about 565,186 (153)

Identification of Novel Compound Heterozygous Variants in SLC19A2 and the Genotype-Phenotype Associations in Thiamine-Responsive Megaloblastic Anemia

Clinica Chimica Acta, 2021
Xiaohong Shang, Guimei Li, Yan Sun
exaly  

Thiamine responsive megaloblastic anemia mimicking mitochondrial disorders

Revue Neurologique, 2019
F. Tinsa, M. Hechmi, I.B. Hadj, F. Khalsi, M. Chargui, R. Kefi, H. Azouz, K. Boussetta, S. Abdelhak   +8 more
openaire   +1 more source

[Bibliometric visualization analysis of thiamine-responsive megaloblastic anemia syndrome].

Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]
Visual analysis of the current status, research hotspots, evolving trends, and future prospects in the field of thiamine-responsive megaloblastic anemia syndrome (TRMA), providing new insights and directions for subsequent research on the pathogenic mechanisms and prevention strategies of TRMA.
L L, Gao, F Q, Lin
openaire   +1 more source

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: A Novel Homozygous SLC19A2 Gene Mutation Identified

American Journal of Medical Genetics, Part A, 2015
Eugenijus Lesinskas, Rasa Verkauskienė, Violeta Mikstiene   +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  

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  

TRMA syndrome (thiamine-responsive megaloblastic anemia): a case report

Endocrine Abstracts, 2019
Manel Jemel, Manel Jemel, Maroua Ben Jemaa, Hajer Kandara, Houda Jemni, Ines Kammoun   +5 more
openaire   +1 more source

Localization of the Thiamine-Responsive Megaloblastic Anemia Syndrome Locus to a 1.4-cM Region of 1q23

Molecular Genetics and Metabolism, 1999
Robert J. Desnick, George A Diaz, Bruce D. Gelb   +2 more
exaly