Wraith JE - 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: wraith je. 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: wraith je. 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: wraith je. 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: wraith je. 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: wraith je. J Inherit Metab Dis. 2002 Oct;25(6):491-500. doi: 10.1023/a:1021259403196. J Inherit Metab Dis. 2002. PMID: 12555942

6

"Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis.

Brown GK, Haan EA, Kirby DM, Scholem RD, Wraith JE, Rogers JG, Danks DM. Brown GK, et al. Among authors: wraith je. Eur J Pediatr. 1988 Jan;147(1):10-4. doi: 10.1007/BF00442603. Eur J Pediatr. 1988. PMID: 3123240

7

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: wraith je. 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

8

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: wraith je. 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.

9

Episodes of severe metabolic acidosis in a patient with 3-methylglutaconic aciduria.

Haan EA, Scholem RD, Pitt JJ, Wraith JE, Brown GK. Haan EA, et al. Among authors: wraith je. Eur J Pediatr. 1987 Sep;146(5):484-8. doi: 10.1007/BF00441599. Eur J Pediatr. 1987. PMID: 2445577

10

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: wraith je. Genomics. 2000 Sep 1;68(2):144-51. doi: 10.1006/geno.2000.6282. Genomics. 2000. PMID: 10964512

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