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
36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1
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
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
Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.
Habeb AM et al.
Diabetologia, 2018
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
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.
Bansal V et al.
Bmc Medicine, 2017
29207974 (PubMed )
Supplement: 12916_2017_977_MOESM1_ESM.pdf
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
[Fanconi-type hereditary infantile panmyelopathy (Fanconi's anemia). Report of a case].
SAGUI G et al.
Archivio Italiano Di Pediatria E Puericoltura, 1962
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