Ataxia-telangiectasia: Treating Mitochondrial Dysfunction With a Novel Form of Anaplerosis
A Phase 2A/2B Placebo-controlled Randomised Clinical Trial to Test the Ability of Triheptanoin to Protect Primary Airway Epithelial Cells Obtained From Participants With Ataxia-telangiectasia Against Death Induced by Glucose Deprivation A Phase 2A/2B Placebo-controlled Randomised Clinical Trial to Test the Ability of Triheptanoin to Pr ...
Use of an antidiabetic drug (Empagliflozin) to lower the blood level of 1,5-anhydroglucitol in patients deficient in the glucose-6-phosphate transporter (GSD1b) and the phosphatase G6PC3, both of the endoplasmic reticulum, to treat their recurrent infections by normalizing their blood neutrophil counts. Neutrophils are the most abundant white blood cells in our blood that are essential to help fighting infections. 1,5-anhydroglucitol is a sugar derivative with no known function. Use of an antidiabetic drug (Empagliflozin) to lower the blood level of 1,5-anhydroglucitol in patie ...
Evaluation of the safety and efficacy of administration of Empagliflozin in a new treatment for neutropenia in patients with Glycogen Storage Disease type 1b (GSD1b) and G6PC3 deficiency. - GLYCO-1B Evaluation of the safety and efficacy of administration of Empagliflozin in a new treatment for neut ...
(1) Severe Congenital Neutropenia type 4 (SNC4) due to a deficiency in G6PC3, a phosphatase of the endoplasmic also known a Ubiquitous glucose-6-phosphatase and (2) the neutropenia in Glycogen Storage Disease type 1b due to a deficiency in the glucose-6-phosphate transporter (G6PT / SLC37A4) of the endoplasmic reticulum.;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] (1) Severe Congenital Neutropenia type 4 (SNC4) due to a deficiency in G6PC3, a phosphatase of the e ...