Carpenter K - Search Results

1

Mutations in the AUH gene cause 3-methylglutaconic aciduria type I.

Ly TB, Peters V, Gibson KM, Liesert M, Buckel W, Wilcken B, Carpenter K, Ensenauer R, Hoffmann GF, Mack M, Zschocke J. Ly TB, et al. Among authors: carpenter k. Hum Mutat. 2003 Apr;21(4):401-7. doi: 10.1002/humu.10202. Hum Mutat. 2003. PMID: 12655555

2

Quantitative fibroblast acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: phenotype/metabolite correlations.

Giak Sim K, Carpenter K, Hammond J, Christodoulou J, Wilcken B. Giak Sim K, et al. Among authors: carpenter k. Mol Genet Metab. 2002 Aug;76(4):327-34. doi: 10.1016/s1096-7192(02)00112-9. Mol Genet Metab. 2002. PMID: 12208138

3

Screening newborns for inborn errors of metabolism by tandem mass spectrometry.

Wilcken B, Wiley V, Hammond J, Carpenter K. Wilcken B, et al. Among authors: carpenter k. N Engl J Med. 2003 Jun 5;348(23):2304-12. doi: 10.1056/NEJMoa025225. N Engl J Med. 2003. PMID: 12788994 Free article.

4

Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.

Wiley V, Carpenter K, Wilcken B. Wiley V, et al. Among authors: carpenter k. Acta Paediatr Suppl. 1999 Dec;88(432):48-51. doi: 10.1111/j.1651-2227.1999.tb01157.x. Acta Paediatr Suppl. 1999. PMID: 10626578

5

Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry.

Carpenter KH, Wilcken B. Carpenter KH, et al. J Inherit Metab Dis. 1999 Oct;22(7):840-1. doi: 10.1023/a:1005566309942. J Inherit Metab Dis. 1999. PMID: 10518286 No abstract available.

6

Glutaric aciduria type I: outcome following detection by newborn screening.

Bijarnia S, Wiley V, Carpenter K, Christodoulou J, Ellaway CJ, Wilcken B. Bijarnia S, et al. Among authors: carpenter k. J Inherit Metab Dis. 2008 Aug;31(4):503-7. doi: 10.1007/s10545-008-0912-z. Epub 2008 Aug 9. J Inherit Metab Dis. 2008. PMID: 18683078

7

Newborn screening--is it really that simple?

Wiley V, Carpenter K, Bayliss U, Wilcken B. Wiley V, et al. Among authors: carpenter k. Southeast Asian J Trop Med Public Health. 2003;34 Suppl 3:107-10. Southeast Asian J Trop Med Public Health. 2003. PMID: 15906711

8

Information overload--new technologies, can we store the data?

Wiley V, Carpenter K, Bennetts B, Wilcken B. Wiley V, et al. Among authors: carpenter k. Southeast Asian J Trop Med Public Health. 2003;34 Suppl 3:59-62. Southeast Asian J Trop Med Public Health. 2003. PMID: 15906696

9

An improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samples.

Alodaib A, Carpenter K, Wiley V, Sim K, Christodoulou J, Wilcken B. Alodaib A, et al. Among authors: carpenter k. Ann Clin Biochem. 2011 Sep;48(Pt 5):468-70. doi: 10.1258/acb.2011.010283. Epub 2011 Jul 20. Ann Clin Biochem. 2011. PMID: 21775576

10

Benign persistent orotic aciduria and the possibility of misdiagnosis of ornithine carbamoyltransferase deficiency.

Carpenter KH, Potter M, Hammond JW, Wilcken B. Carpenter KH, et al. J Inherit Metab Dis. 1997 Jul;20(3):354-8. doi: 10.1023/a:1005369726686. J Inherit Metab Dis. 1997. PMID: 9266354 Clinical Trial. No abstract available.

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