Associated Papers
Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia.
Mohsen-Pour N et al.
Laboratory Medicine, 2022
Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome.
Kang P et al.
Frontiers in Pediatrics, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.
Marcé-Grau A et al.
Journal of Inherited Metabolic Disease, 2019
Recovered insulin production after thiamine administration in permanent neonatal diabetes mellitus with a novel solute carrier family 19 member 2 (SLC19A2) mutation.
Sun C et al.
Journal of Diabetes, 2018
Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report.
Akbari MT et al.
European Journal of Pediatrics, 2014
Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia.
Setoodeh A et al.
Gene, 2013
Thiamine-responsive megaloblastic anemia (TRMA) in an Austrian boy with compound heterozygous SLC19A2 mutations.
Pichler H et al.
European Journal of Pediatrics, 2012
Screening newborns: current state and future challenges. Abstracts of the International Congress on Prevention of Congenital Diseases. Vienna, Austria. May 13-14, 2011.
Unknown Author
Journal of Inherited Metabolic Disease, 2011
Targeting and intracellular trafficking of clinically relevant hTHTR1 mutations in human cell lines.
Subramanian VS et al.
Clinical Science (london, England : 1979), 2007
Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome.
Lagarde WH et al.
American Journal of Medical Genetics. Part A, 2004
The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families.
Raz T et al.
Human Mutation, 2000
Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness.
Labay V et al.
Nature Genetics, 1999
Select a paper to view details