Renata C Gallagher

Summary

Affiliation: University of Colorado
Country: USA

Publications

  1. doi request reprint Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy
    Renata C Gallagher
    Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado at Denver, CO, USA
    Ann Neurol 65:550-6. 2009
  2. pmc The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1
    Gunter Scharer
    Department of Pediatrics, University of Colorado Denver, Aurora, CO 80045, USA
    J Inherit Metab Dis 33:571-81. 2010
  3. doi request reprint Urea cycle disorders: brain MRI and neurological outcome
    William R Bireley
    Department of Radiology, University of Colorado, 12631 E 17th Ave, Aurora, CO 80045, USA
    Pediatr Radiol 42:455-62. 2012
  4. pmc Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy
    Johan L K Van Hove
    Department of Pediatrics, University of Colorado Denver, Aurora, Colorado 80045, USA
    Pediatr Res 68:159-64. 2010

Collaborators

Detail Information

Publications4

  1. doi request reprint Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy
    Renata 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...
  2. pmc The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1
    Gunter 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...
  3. doi request reprint Urea cycle disorders: brain MRI and neurological outcome
    William 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...
  4. pmc Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy
    Johan 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...