نتایج جستجو برای: thiamine responsive
تعداد نتایج: 64578 فیلتر نتایج به سال:
Fibroblasts from patients with thiamine-responsive megaloblastic anemia (TRMA) syndrome with diabetes and deafness undergo apoptotic cell death in the absence of supplemental thiamine in their cultures. The basis of megaloblastosis in these patients has not been determined. Here we use the stable [1,2-13C2]glucose isotope-based dynamic metabolic profiling technique to demonstrate that defective...
A three year old boy presented with sensory neural hearing loss since birth, Diabetes mellitus and anaemia. On investigation he was found to be suffering from thiamine responsive megaloblastic anaemia (TRMA) a very rare condition diagnosed in our settings.
Thiamine-responsive megaloblastic anemia (TRMA) also known as Rogers syndrome is a rare autosomal recessive disorder characterized by anemia, diabetes mellitus, and progressive sensorineural deafness. The disease can be manifested anytime between infancy adolescence, all the cardinal findings may not present at time of diagnosis. main defect lies in active thiamine uptake into cells which distu...
The response of a cell to integrated stresses was investigated using environmental and/or genetic perturbations that disrupted labile iron homeostasis and increased oxidative stress. The effects of the perturbations were monitored as nutritional requirements, and were traced to specific enzymic targets. A yggX gshA cyaY mutant strain required exogenous thiamine and methionine for growth. The th...
BACKGROUND The clinical characteristics distinguishing treatable thiamine transporter-2 deficiency (ThTR2) due to SLC19A3 genetic defects from the other devastating causes of Leigh syndrome are sparse. METHODS We report the clinical follow-up after thiamine and biotin supplementation in four children with ThTR2 deficiency presenting with Leigh and biotin-thiamine-responsive basal ganglia dise...
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