Renata C Gallagher
Affiliation: University of Colorado
- Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsyRenata C Gallagher
Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado at Denver, CO, USA
Ann Neurol 65:550-6. 2009..We performed genetic and biochemical testing of samples from these patients, and seven others, to determine the relation between these two disorders...
- The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1Gunter Scharer
Department of Pediatrics, University of Colorado Denver, Aurora, CO 80045, USA
J Inherit Metab Dis 33:571-81. 2010..There is evidence from patients with similar genotypes for nongenetic factors contributing to the phenotypic spectrum...
- Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processingKathryn C Chatfield
Pediatric Cardiology, Children s Hospital of Colorado, University of Colorado School of Medicine, Aurora, CO, USA
Mitochondrion 21:1-10. 2015..This study provides evidence of abnormal mitochondrial RNA processing causing mitochondrial energy failure in HSD10 disease. ..
- Urea cycle disorders: brain MRI and neurological outcomeWilliam R Bireley
Department of Radiology, University of Colorado, 12631 E 17th Ave, Aurora, CO 80045, USA
Pediatr Radiol 42:455-62. 2012..Urea cycle disorders encompass several enzyme deficiencies that can result in cerebral damage, with a wide clinical spectrum from asymptomatic to severe...
- Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathyJohan L K Van Hove
Department of Pediatrics, University of Colorado Denver, Aurora, Colorado 80045, USA
Pediatr Res 68:159-64. 2010..Succinyl-CoA ligase deficiency due to an SUCLG1 mutation is a new cause for mitochondrial hepatoencephalomyopathy...
- Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcomeCurtis R Coughlin
Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, CO, United States
Mol Genet Metab 116:35-43. 2015....