Browsing by Author Carpenter, Kevin

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Issue DateTitleAuthor(s)Citation
2013AAV-encoded OTC activity persisting to adulthood following delivery to newborn spfash mice is insufficient to prevent shRNA-induced hyperammonaemia.Alexander, Ian; Carpenter, Kevin; Cunningham, Sharon; Kok, Cindy; Spinoulas, Afroditi; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Childrens Medical Research InsAAV-encoded OTC activity persisting to adulthood following delivery to newborn spfash mice is insufficient to prevent shRNA-induced hyperammonaemia., Gene Therapy, vol.20, 12, 2013,pp 1184-1187
2009AAV2/8-mediated Correction of OTC Deficiency Is Robust in Adult but Not Neonatal Spf(ash) MiceAlexander, Ian; Carpenter, Kevin; Kuchel, Philip; Wilcken, Bridget; Cunningham, Sharon C.; Spinoulas, Afroditi; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; School of Molecular Bioscience; Children's Hospital Westmead: Paediatrics & Child HealthAAV2/8-mediated Correction of OTC Deficiency Is Robust in Adult but Not Neonatal Spf(ash) Mice, Molecular Therapy, vol.17, 8,pp 1340-1346
2014Activating HSP72 in Rodent Skeletal Muscle Increases Mitochondrial Number and Oxidative Capacity and Decreases Insulin ResistanceCarpenter, Kevin; Bruce, Clinton R.; Chung, Jason; Connor, Timothy; Drew, Brian G; Estevez, Emma; et al, Various; Gardner, Timothy; Henstridge, Darren; Kolonics, Attila; Lee-Young, Robert; Tory, Kalman; Watson, Nadine; Children's Hospital Westmead: MedicineActivating HSP72 in Rodent Skeletal Muscle Increases Mitochondrial Number and Oxidative Capacity and Decreases Insulin Resistance, Diabetes, vol.63, 6, 2014,pp 1881-1894
2002Acylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid Oxidation disordersCarpenter, Kevin; Christodoulou, John; Sim, Keow; Wilcken, Bridget; Hammond, Judith; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthAcylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid Oxidation disorders, Metabolism-Clinical And Experimental, vol.51,(3),2002,pp 366-371
2013Adeno-associated Virus-mediated Rescue of Neonatal Lethality in Argininosuccinate Synthetase-deficient MiceAlexander, Ian; Carpenter, Kevin; Cunningham, Sharon; Kuchel, Philip; Dane, Alison; Kok, Cindy; Logan, G; Siew, Susan; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Childrens Medical Research Ins; Molecular BioscienceAdeno-associated Virus-mediated Rescue of Neonatal Lethality in Argininosuccinate Synthetase-deficient Mice, Molecular Therapy, vol.21, 10, 2013,pp 1823-1831
2009Congenital disorder of glycosylation type Ia: Heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiencyBhattacharya, Kaustuv; Carpenter, Kevin; Christodoulou, John; Silink, Martin; Clayton, P.; Fietz, M.; Howard, Neville J.; Shanti, B.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthCongenital disorder of glycosylation type Ia: Heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency, Journal of Inherited Metabolic Disease (JIMD), vol.Short Report #166 - online,(N/A),2009,pp 1-11
2016Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridineCarpenter, Kevin; Pinner, Jason; Wilcken, Bridget; Bamshad, Michael; Duley, John; Henman, Michael; Marshall, George; Ooi, Chee Y; Childrens Hospital Westmead: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthElevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine, Molecular Genetics and Metabolism, vol.119, N/A, 2016,pp 83-90
2014Expanded newborn screening in New South Wales: missed casesBhattacharya, Kaustuv; Carpenter, Kevin; Tchan, Michel; Wilcken, Bridget; Wiley, Veronica; Estrella, Jane; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Western Clinical School: Medicine (Westmead); Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthExpanded newborn screening in New South Wales: missed cases, Journal of Inherited Metabolic Disease (JIMD), vol.37, 6, 2014,pp 881-887
2009Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 YearsCarpenter, Kevin; Christodoulou, John; Ellaway, Carolyn; Wilcken, Bridget; Wiley, Veronica; Bowling, Francis; Cowley, David; Fletcher, Janice; Haas, Marion; Joy, Pamela; Kirk, E. P. E.; Lewis, Barry; McGill, Jim; Peters, Heidi; Pitt, James; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthExpanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years, Pediatrics, vol.124, 2,pp e241-e248
2008Glutaric aciduria type I: outcome following detection by newborn screeningBijarnia, S; Carpenter, Kevin; Christodoulou, John; Ellaway, Carolyn; Wilcken, Bridget; Wiley, Veronica; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthGlutaric aciduria type I: outcome following detection by newborn screening, Journal of Inherited Metabolic Disease (JIMD), vol.31,(4),2008,pp 503-507
2014Glycemic Effects and Safety of L-Glutamine Supplementation with or without Sitagliptin in Type 2 Diabetes Patients-A Randomized StudCarpenter, Kevin; Chisholm, Donald J; Coster, Adelle; Greenfield, Jerry R; Gribble, Fiona; Holst, J; Jones, Graham R D; Samocha-Bonet, Dorit; Children's Hospital Westmead: MedicineGlycemic Effects and Safety of L-Glutamine Supplementation with or without Sitagliptin in Type 2 Diabetes Patients-A Randomized Stud, PloS One, vol.9, 11, 2014,pp 1-7
2012Homocysteine Measurement in Dried Blood Spot for Neonatal Detection of HomocystinuriasAlodaib, Ahmed; Carpenter, Kevin; Christodoulou, John; Wilcken, Bridget; Wiley, Veronica; Wotton, Tiffany; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthHomocysteine Measurement in Dried Blood Spot for Neonatal Detection of Homocystinurias in JIMD Reports - Case and Research Reports, 2012/2, Springer, 2012, pp. 1-6
2012Human Variome Project Country Nodes: Documenting Genetic Information within a CountryCarpenter, Kevin; Al-Mulla, Fahd; Chouchane, Lotfi; et, al; Hadjisavvas, Andreas; Hamed, Sherifa; Howard, Heather; Li, Xi-Tao; Marafie, Makia; Patrinos, George; Ramesar, Rajkumar; Ramos, Feliciano; Smith, Timothy; Children's Hospital Westmead: MedicineHuman Variome Project Country Nodes: Documenting Genetic Information within a Country, Human Mutation, vol.33, 11, 2012,pp 1513-1519
2011An improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samplesAlodaib, Ahmed; Carpenter, Kevin; Christodoulou, John; Wilcken, Bridget; Wiley, Veronica; Sim, K; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthAn improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samples, Annals of clinical biochemistry, vol.48, 5, 2011,pp 468-470
2011Induction and Prevention of Severe Hyperammonemia in the spf(ash) Mouse Model of Ornithine Transcarbamylase Deficiency Using shRNA and rAAV-mediated Gene DeliveryAlexander, Ian; Carpenter, Kevin; Cunningham, Sharon; Kizana, Eddy; Kuchel, Philip; Dane, Alison; Kok, Cindy; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Childrens Medical Research Ins; Western Clinical School: Medicine (Westmead); Molecular BioscienceInduction and Prevention of Severe Hyperammonemia in the spf(ash) Mouse Model of Ornithine Transcarbamylase Deficiency Using shRNA and rAAV-mediated Gene Delivery, Molecular Therapy, vol.19, 5, 2011,pp 854-859
2007Low citrulline may not be diagnostic of ornithine transcarbamylase deficiency: a case reportCarpenter, Kevin; Chiong, Mary; Christodoulou, John; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child HealthLow citrulline may not be diagnostic of ornithine transcarbamylase deficiency: a case report, Journal of inherited metabolic disease (JIMD), vol.30,(3),2007,pp 405-405
2011Maternal Riboflavin Deficiency, Resulting in Transient Neonatal-Onset Glutaric Aciduria Type 2, Is Caused by a Microdeletion in the Riboflavin Transporter Gene GPR172BCarpenter, Kevin; Christodoulou, John; Ho, Gladys; Peters, Gregory; Inui, Ken-Ichi; Masuda, Satohiro; Mitchell, John J.; Olsen, R. K. J.; Rhead, William; Sim, K. G.; Yonezawa, Atsushi; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthMaternal Riboflavin Deficiency, Resulting in Transient Neonatal-Onset Glutaric Aciduria Type 2, Is Caused by a Microdeletion in the Riboflavin Transporter Gene GPR172B, Human Mutation, vol.32, 1, 2011,pp E1976-E1984
2006Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations.Bennetts, Bruce; Carpenter, Kevin; Wilcken, Bridget; Wiley, Veronica; Andresen, Brage S.; Angel, Lyn; Waddell, Leigh; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthMedium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations., Molecular Genetics and Metabolism (2005), vol.87,(1),2006,pp 32-39
2015Modeling correction of severe urea cycle defects in the growing murine liver using a hybrid recombinant adeno-associated virus/piggyBac transposase gene delivery systemAlexander, Ian; Cunningham, Sharon; Bolitho, Christine; Carpenter, Kevin; de Alencastro, Gustavo; Garg, Gagan; Hallwirth, Claus V.; Hetherington, Nicola; Michael, Iacovos; Nagy, Andras; Sasaki, Natsuki; Siew, Susan; Childrens Medical Research Institute (CMRI); Childrens Medical Research Institute (CMRI)Modeling correction of severe urea cycle defects in the growing murine liver using a hybrid recombinant adeno-associated virus/piggyBac transposase gene delivery system, Hepatology, vol.62, 2, 2015,pp 417-428
2003Mutations in the AUH gene cause 3-Methylglutoconic aciduria Type IWilcken, Bridget; Buckel, Wolfgang; Carpenter, Kevin; Ensenauer, Regina; Gibson, K. Michael; Hoffmann, Geroge F.; Liesert, Michael; Mack, Matthias; Nga Ly, T. B.; Peters, Verena; Zschocke, Johannes; Children's Hospital Westmead: Paediatrics & Child HealthMutations in the AUH gene cause 3-Methylglutoconic aciduria Type I, Human Mutation, vol.21,(4),2003,pp 401-407