Besley GT - Search Results

1

Lactic acidosis and developmental delay due to deficiency of E3 binding protein (protein X) of the pyruvate dehydrogenase complex.

Ramadan DG, Head RA, Al-Tawari A, Habeeb Y, Zaki M, Al-Ruqum F, Besley GT, Wraith JE, Brown RM, Brown GK. Ramadan DG, et al. Among authors: besley gt. J Inherit Metab Dis. 2004;27(4):477-85. doi: 10.1023/B:BOLI.0000037336.91549.44. J Inherit Metab Dis. 2004. PMID: 15303005

2

Common MCAD mutation in a healthy parent of two affected siblings.

Heptinstall LE, Till J, Wraith JE, Besley GT. Heptinstall LE, et al. Among authors: besley gt. J Inherit Metab Dis. 1995;18(5):638-9. doi: 10.1007/BF02436011. J Inherit Metab Dis. 1995. PMID: 8598647 No abstract available.

3

Trifunctional protein deficiency: three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutation.

Chakrapani A, Olpin S, Cleary M, Walter JH, Wraith JE, Besley GT. Chakrapani A, et al. Among authors: besley gt. J Inherit Metab Dis. 2000 Dec;23(8):826-34. doi: 10.1023/a:1026712719416. J Inherit Metab Dis. 2000. PMID: 11196108

4

Juvenile Sandhoff disease--nine new cases and a review of the literature.

Hendriksz CJ, Corry PC, Wraith JE, Besley GT, Cooper A, Ferrie CD. Hendriksz CJ, et al. Among authors: besley gt. J Inherit Metab Dis. 2004;27(2):241-9. doi: 10.1023/B:BOLI.0000028777.38551.5a. J Inherit Metab Dis. 2004. PMID: 15159655 Review.

5

Niemann-Pick disease type C in adults.

Imrie J, Vijayaraghaven S, Whitehouse C, Harris S, Heptinstall L, Church H, Cooper A, Besley GT, Wraith JE. Imrie J, et al. Among authors: besley gt. J Inherit Metab Dis. 2002 Oct;25(6):491-500. doi: 10.1023/a:1021259403196. J Inherit Metab Dis. 2002. PMID: 12555942

6

The natural history of Niemann-Pick disease type C in the UK.

Imrie J, Dasgupta S, Besley GT, Harris C, Heptinstall L, Knight S, Vanier MT, Fensom AH, Ward C, Jacklin E, Whitehouse C, Wraith JE. Imrie J, et al. Among authors: besley gt. J Inherit Metab Dis. 2007 Feb;30(1):51-9. doi: 10.1007/s10545-006-0384-7. Epub 2006 Dec 11. J Inherit Metab Dis. 2007. PMID: 17160617

7

Generalised uridine diphosphate galactose-4-epimerase deficiency.

Walter JH, Roberts RE, Besley GT, Wraith JE, Cleary MA, Holton JB, MacFaul R. Walter JH, et al. Among authors: besley gt. Arch Dis Child. 1999 Apr;80(4):374-6. doi: 10.1136/adc.80.4.374. Arch Dis Child. 1999. PMID: 10086948 Free PMC article.

8

Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations.

Fukao T, Mitchell GA, Song XQ, Nakamura H, Kassovska-Bratinova S, Orii KE, Wraith JE, Besley G, Wanders RJ, Niezen-Koning KE, Berry GT, Palmieri M, Kondo N. Fukao T, et al. Among authors: besley g. Genomics. 2000 Sep 1;68(2):144-51. doi: 10.1006/geno.2000.6282. Genomics. 2000. PMID: 10964512

9

Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation.

Cleary MA, Dorland L, de Koning TJ, Poll-The BT, Duran M, Mandell R, Shih VE, Berger R, Olpin SE, Besley GT. Cleary MA, et al. Among authors: besley gt. J Inherit Metab Dis. 2005;28(5):673-9. doi: 10.1007/s10545-005-0074-1. J Inherit Metab Dis. 2005. PMID: 16151897

10

Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy.

Kurian MA, Ryan S, Besley GT, Wanders RJ, King MD. Kurian MA, et al. Among authors: besley gt. J Inherit Metab Dis. 2004;27(1):105-8. doi: 10.1023/b:boli.0000016687.88818.6d. J Inherit Metab Dis. 2004. PMID: 15065573

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