Associated Papers
Childhood thiamine-responsive megaloblastic anemia and diabetes: a case series highlighting early diagnosis and management.
Yılmaz UC et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2026
An extremely rare case of Rogers syndrome or thiamine responsive megaloblastic anemia.
Kaur G et al.
Indian Journal of Pathology & Microbiology, 2025
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
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
Type 1 diabetes genetic risk score discriminates between monogenic and Type 1 diabetes in children diagnosed at the age of <5 years in the Iranian population.
Yaghootkar H et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2019
Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.
Fouquet C et al.
British Journal of Haematology, 2019
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
Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.
Habeb AM et al.
Diabetologia, 2018
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.
Bansal V et al.
Bmc Medicine, 2017
Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report.
Katipoğlu N et al.
Archivos Argentinos De Pediatria, 2017
Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings.
Mozzillo E et al.
Pediatric Diabetes, 2013
Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia.
Shaw-Smith C et al.
Pediatric Diabetes, 2012
Does early treatment prevent deafness in thiamine-responsive megaloblastic anaemia syndrome?
Akın L et al.
Journal of Clinical Research in Pediatric Endocrinology, 2011
Thiamine-responsive megaloblastic anemia syndrome.
Bay A et al.
International Journal of Hematology, 2010
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 a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome.
Diaz GA et al.
Nature Genetics, 1999
[Fanconi-type hereditary infantile panmyelopathy (Fanconi's anemia). Report of a case].
SAGUI G et al.
Archivio Italiano Di Pediatria E Puericoltura, 1962
Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness.
Onal H et al.
The Turkish Journal of Pediatrics, 0