Associated Papers
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
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
Leber's congenital amaurosis as the retinal degenerative phenotype in thiamine responsive megaloblastic anemia: a case report.
Srikrupa NN et al.
Ophthalmic Genetics, 2014
Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.
Flanagan SE et al.
Cell Metabolism, 2014
24411943 (PubMed )
Supplement: mmc1.pdf
Megaloblastic anaemia in infancy or early childhood and diabetes as leading symptoms of the TRMA syndrome.
Zmysłowska A et al.
Pediatric Endocrinology, Diabetes, and Metabolism, 2012
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