Thiamine (vitamin B1) is a precursor of the well-known coenzyme of central metabolic
pathways thiamine diphosphate (ThDP). Highly intense glucose oxidation in the brain …

Background Beta-cell monogenic forms of diabetes have strong support for precision
medicine. We systematically analyzed evidence for precision treatments for GCK-related …

During pregnancy, many physiologic changes occur in order to accommodate fetal growth.
These changes require an increase in many of the nutritional needs to prevent long-term …

Introduction: Thiamine is a key cofactor for energy metabolism in brain tissue. There are four
major genetic defects (SLC19A2, SLC19A3, SLC25A19 and TPK1) involved in the …

Background and aims Thiamine-responsive megaloblastic anemia (TRMA), caused by
SLC19A2 loss-of-function variants, is characterized by the triad of megaloblastic anemia …

摘要背景溶质运载蛋白家族19 成员2 (solute carrier family 19 member 2, SLC19A2)
基因缺陷是永久性新生儿糖尿病(permanent neonatal diabetes mellitus, PNDM) 的病因之一 …

Background: Beta-cell monogenic forms of diabetes are the area of diabetes care with the
strongest support for precision medicine. We reviewed treatment of hyperglycemia in GCK …

Thiamine responsive megaloblastic anemia (TRMA) is an autosomal recessive disease
caused by loss of function mutations in the SLC19A2 gene. TRMA is characterized by …

Background Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal
recessive inherited disease characterized by the clinical triad of megaloblastic anemia …

Background Individuals with thiamine-responsive megaloblastic anemia (TRMA) mainly
manifest macrocytic anemia, sensorineural deafness, ocular complications, and …