Thiamine-responsive megaloblastic anemia (TRMA) in an Austrian boy with compound heterozygous SLC19A2 mutations

Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness

Valentina Labay, Tal Raz, Dana Baron et al. · Nature Genetics · 1999 · 273 citations

Mendelian Disorder, Genetic Disorder, Genetics +9

The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter

Judith C. Fleming, Elena Tartaglini, Mara P. Steinkamp et al. · Nature Genetics · 1999 · 224 citations

Genetics, Physiology, Inherited Metabolic Disease +6

Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome

George A. Diaz, Maryam Banikazemi, Kimihiko Oishi et al. · Nature Genetics · 1999 · 204 citations

Mendelian Disorder, Genetic Disorder, Genetics +8

Thiamine-Responsive Megaloblastic Anemia: Identification of Novel Compound Heterozygotes and Mutation Update

Anke Bergmann, Inderneel Sahai, Jill Falcone et al. · The Journal of Pediatrics · 2009 · 87 citations · Full text

Laboratory Hematology, Biochemistry, Novel Compound Heterozygotes +12

Thiamine-responsive megaloblastic anaemia syndrome: Long-term follow-up and mutation analysis of seven families

Christopher J. Ricketts, Jayne A.L. Minton, Jacob Samuel et al. · Acta Paediatrica · 2005 · 75 citations