Results 1 -
8
of
8
for
Combined oxidative phosphorylation deficiency 1
- Combined oxidative phosphorylation deficiency 1 is a severe condition that primarily impairs neurological and liver function.Most people with combined oxidative ...
- ... the GFM1 gene have been found to cause combined oxidative phosphorylation deficiency 1. This condition causes severe neurologic and liver dysfunction. ...
- ... not show signs and symptoms of the condition. Combined oxidative phosphorylation deficiency 12 COXPD12 LTBL Genetic Testing Registry: Leukoencephalopathy-thalamus ...
- ... A, de Coo IF, Smeets HJ. Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene. Brain. 2011 Jan;134(Pt 1):210-9. doi: 10.1093/brain/awq273. Epub ...
- ... contributes to the severe signs and symptoms of combined D,L-2-HGA More About This Health ... 1 tricarboxylate carrier protein tricarboxylate transport protein, mitochondrial TXTP_ ...
- ... failure. J Pediatr Gastroenterol Nutr. 2009 Jul;49(1):130-2. doi: ... and combined deficiencies of the mitochondrial respiratory chain in patients ...
- ... apparent in infancy and causes severe brain dysfunction combined with muscle weakness (encephalomyopathy) and the failure of ... Central Quinzii CM, Hirano M. Coenzyme Q and mitochondrial disease. Dev Disabil Res Rev. 2010;16(2):183- ...
- ... body systems. It typically leads to brain dysfunction combined with muscle weakness (encephalomyopathy) and a problem with ... Taylor RW, Gorman GS. Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. Brain. 2012 ...