Charles P Venditti

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc Neurocognitive phenotype of isolated methylmalonic acidemia
    Colin J O'Shea
    National Institute of Mental Health, National Institutes of Health, Building 49 Room 4A18 Bethesda, MD 20892 4472, USA
    Pediatrics 129:e1541-51. 2012
  2. pmc Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes
    Randy J Chandler
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    BMC Med Genet 8:24. 2007
  3. pmc Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle
    Randy J Chandler
    Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    BMC Med Genet 8:64. 2007
  4. ncbi request reprint Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis
    Laura N Venditti
    Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    Pediatrics 112:1005-15. 2003
  5. doi request reprint Characterization of the null murine sodium/myo-inositol cotransporter 1 (Smit1 or Slc5a3) phenotype: myo-inositol rescue is independent of expression of its cognate mitochondrial ribosomal protein subunit 6 (Mrps6) gene and of phosphatidylinositol levels
    Roberto Buccafusca
    Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, USA
    Mol Genet Metab 95:81-95. 2008

Collaborators

  • Gerard T Berry
  • Randy J Chandler
  • Edward M Kaye
  • Colin J O'Shea
  • Roberto Buccafusca
  • Laura N Venditti
  • Jennifer L Sloan
  • Edythe A Wiggs
  • Joseph Snow
  • Maryland Pao
  • Irini Manoli
  • Eva H Baker
  • Andrea Gropman
  • Silvia Pagliardini
  • Jeremy Minarcik
  • Jun Ren
  • Jeffrey A Golden
  • Lawrence C Kenyon
  • John J Greer
  • Roy A Johanson
  • Elisabeth Van Bockstaele
  • Michael J Coady
  • Paige B Kaplan
  • Charles A Stanley
  • Henry Glick

Detail Information

Publications5

  1. pmc Neurocognitive phenotype of isolated methylmalonic acidemia
    Colin J O'Shea
    National Institute of Mental Health, National Institutes of Health, Building 49 Room 4A18 Bethesda, MD 20892 4472, USA
    Pediatrics 129:e1541-51. 2012
    ..Methylmalonic acidemia (MMA) is a metabolic disorder with a poorly defined long-term neurocognitive phenotype. We studied the neuropsychological outcomes of patients and examined clinical covariates that influenced cognition...
  2. pmc Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes
    Randy J Chandler
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    BMC Med Genet 8:24. 2007
    ....
  3. pmc Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle
    Randy J Chandler
    Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    BMC Med Genet 8:64. 2007
    ..Current treatment regimens rely on dietary management and, in severely affected patients, liver or combined liver-kidney transplantation. For undetermined reasons, transplantation does not correct the biochemical phenotype...
  4. ncbi request reprint Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis
    Laura N Venditti
    Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    Pediatrics 112:1005-15. 2003
    ....
  5. doi request reprint Characterization of the null murine sodium/myo-inositol cotransporter 1 (Smit1 or Slc5a3) phenotype: myo-inositol rescue is independent of expression of its cognate mitochondrial ribosomal protein subunit 6 (Mrps6) gene and of phosphatidylinositol levels
    Roberto Buccafusca
    Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, USA
    Mol Genet Metab 95:81-95. 2008
    ..In conclusion, in neonatal brain tissue, Mrps6 gene expression may not be contingent on function of its embedded Slc5a3 gene, while inositide deficiency may not be the mechanism of lethal apnea in null Slc5a3 mice...