Associated Papers
Genetic and clinical heterogeneity of permanent neonatal diabetes mellitus: a single tertiary centre experience.
Laimon W et al.
Acta Diabetologica, 2021
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: a novel homozygous SLC19A2 gene mutation identified.
Mikstiene V et al.
American Journal of Medical Genetics. Part A, 2015
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