Charles P Venditti
Affiliation: National Institutes of Health
- Neurocognitive phenotype of isolated methylmalonic acidemiaColin 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...
- Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytesRandy J Chandler
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
BMC Med Genet 8:24. 2007....
- Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscleRandy 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...
- Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysisLaura N Venditti
Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
Pediatrics 112:1005-15. 2003....
- 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...