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Kevin Carpenter

Showing results (11-20 of 26) with videos related to

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Journal of Inherited Metabolic Disease|June 28, 2014
Expanded newborn screening in New South Wales: missed casesJane Estrella, Bridget Wilcken, Kevin Carpenter, et al.
JIMD Reports|February 23, 2013
Homocysteine measurement in dried blood spot for neonatal detection of homocystinuriasAhmad N Alodaib, Kevin Carpenter, Veronica Wiley, et al.
Molecular Genetics and Metabolism|November 18, 2005
Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlationsLeigh Waddell, Veronica Wiley, Kevin Carpenter, et al.
The Medical Journal of Australia|November 21, 2007
Gamma-hydroxybutyrate poisoning from toy beadsNaren Gunja, Evelyn Doyle, Kevin Carpenter, et al.
American Journal of Medical Genetics. Part A|July 29, 2003
D-2-hydroxyglutaric aciduria: a case with an intermediate phenotype and prenatal diagnosis of two affected fetusesNigel F Clarke, Ian Andrews, Kevin Carpenter, et al.
Journal of Inherited Metabolic Disease|January 6, 2010
Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availabilityShanti Balasubramaniam, Frank Bowling, Kevin Carpenter, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|March 10, 2011
Induction and prevention of severe hyperammonemia in the spfash mouse model of ornithine transcarbamylase deficiency using shRNA and rAAV-mediated gene deliverySharon C Cunningham, Cindy Y Kok, Allison P Dane, et al.
JIMD Reports|July 13, 2022
Genotype-phenotype correlations in CPT1A deficiency detected by newborn screening in Pacific populationsIsaac Bernhardt, Emma Glamuzina, Leah K Dowsett, et al.
Diabetes|December 17, 2008
Overexpression of carnitine palmitoyltransferase-1 in skeletal muscle is sufficient to enhance fatty acid oxidation and improve high-fat diet-induced insulin resistanceClinton R Bruce, Andrew J Hoy, Nigel Turner, et al.
Human Mutation|March 26, 2003
Mutations in the AUH gene cause 3-methylglutaconic aciduria type IT B Nga Ly, Verena Peters, K Michael Gibson, et al.
Pageof 3

Showing results (11-20 of 26) with videos related to

Sort By:
Pageof 3
Journal of Inherited Metabolic Disease|June 28, 2014
Expanded newborn screening in New South Wales: missed casesJane Estrella, Bridget Wilcken, Kevin Carpenter, et al.
JIMD Reports|February 23, 2013
Homocysteine measurement in dried blood spot for neonatal detection of homocystinuriasAhmad N Alodaib, Kevin Carpenter, Veronica Wiley, et al.
Molecular Genetics and Metabolism|November 18, 2005
Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlationsLeigh Waddell, Veronica Wiley, Kevin Carpenter, et al.
The Medical Journal of Australia|November 21, 2007
Gamma-hydroxybutyrate poisoning from toy beadsNaren Gunja, Evelyn Doyle, Kevin Carpenter, et al.
American Journal of Medical Genetics. Part A|July 29, 2003
D-2-hydroxyglutaric aciduria: a case with an intermediate phenotype and prenatal diagnosis of two affected fetusesNigel F Clarke, Ian Andrews, Kevin Carpenter, et al.
Journal of Inherited Metabolic Disease|January 6, 2010
Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availabilityShanti Balasubramaniam, Frank Bowling, Kevin Carpenter, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|March 10, 2011
Induction and prevention of severe hyperammonemia in the spfash mouse model of ornithine transcarbamylase deficiency using shRNA and rAAV-mediated gene deliverySharon C Cunningham, Cindy Y Kok, Allison P Dane, et al.
JIMD Reports|July 13, 2022
Genotype-phenotype correlations in CPT1A deficiency detected by newborn screening in Pacific populationsIsaac Bernhardt, Emma Glamuzina, Leah K Dowsett, et al.
Diabetes|December 17, 2008
Overexpression of carnitine palmitoyltransferase-1 in skeletal muscle is sufficient to enhance fatty acid oxidation and improve high-fat diet-induced insulin resistanceClinton R Bruce, Andrew J Hoy, Nigel Turner, et al.
Human Mutation|March 26, 2003
Mutations in the AUH gene cause 3-methylglutaconic aciduria type IT B Nga Ly, Verena Peters, K Michael Gibson, et al.
Pageof 3