Associated Papers
Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review.
Wang J et al.
Frontiers in Genetics, 2021
34276785 (PubMed )
Supplement: Table_1.XLSX › Summary_of_clinical_and_genetic
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
Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia.
Shaw-Smith C et al.
Pediatric Diabetes, 2012
Unusual case of thiamine responsive megaloblastic anemia.
Tinsa F et al.
La Tunisie Medicale, 2009
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