Young EP - Search Results

1

Discovery of a new biomarker for the mucopolysaccharidoses (MPS), dipeptidyl peptidase IV (DPP-IV; CD26), by SELDI-TOF mass spectrometry.

Beesley CE, Young EP, Finnegan N, Jackson M, Mills K, Vellodi A, Cleary M, Winchester BG. Beesley CE, et al. Among authors: young ep. Mol Genet Metab. 2009 Apr;96(4):218-24. doi: 10.1016/j.ymgme.2008.12.002. Epub 2009 Jan 18. Mol Genet Metab. 2009. PMID: 19153055

2

Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease.

Mills K, Vellodi A, Morris P, Cooper D, Morris M, Young E, Winchester B. Mills K, et al. Eur J Pediatr. 2004 Oct;163(10):595-603. doi: 10.1007/s00431-004-1484-z. Eur J Pediatr. 2004. PMID: 15243806

3

The synthesis of internal standards for the quantitative determination of sphingolipids by tandem mass spectrometry.

Mills K, Eaton S, Ledger V, Young E, Winchester B. Mills K, et al. Rapid Commun Mass Spectrom. 2005;19(12):1739-48. doi: 10.1002/rcm.1977. Rapid Commun Mass Spectrom. 2005. PMID: 15909321

4

Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

Beesley CE, Young EP, Vellodi A, Winchester BG. Beesley CE, et al. Among authors: young ep. J Med Genet. 1998 Nov;35(11):910-4. doi: 10.1136/jmg.35.11.910. J Med Genet. 1998. PMID: 9832037 Free PMC article.

5

Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.

Beesley CE, Meaney CA, Greenland G, Adams V, Vellodi A, Young EP, Winchester BG. Beesley CE, et al. Among authors: young ep. Hum Genet. 2001 Nov;109(5):503-11. doi: 10.1007/s004390100606. Epub 2001 Oct 19. Hum Genet. 2001. PMID: 11735025

6

Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene.

Beesley CE, Burke D, Jackson M, Vellodi A, Winchester BG, Young EP. Beesley CE, et al. Among authors: young ep. J Med Genet. 2003 Mar;40(3):192-4. doi: 10.1136/jmg.40.3.192. J Med Genet. 2003. PMID: 12624138 Free PMC article.

7

Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease.

Mills K, Morris P, Lee P, Vellodi A, Waldek S, Young E, Winchester B. Mills K, et al. J Inherit Metab Dis. 2005;28(1):35-48. doi: 10.1007/s10545-005-5263-4. J Inherit Metab Dis. 2005. PMID: 15702404

8

Is globotriaosylceramide a useful biomarker in Fabry disease?

Young E, Mills K, Morris P, Vellodi A, Lee P, Waldek S, Winchester B. Young E, et al. Acta Paediatr Suppl. 2005 Mar;94(447):51-4; discussion 37-8. doi: 10.1111/j.1651-2227.2005.tb02112.x. Acta Paediatr Suppl. 2005. PMID: 15895713

9

Plasma chitotriosidase activity in Gaucher disease patients who have been treated either by bone marrow transplantation or by enzyme replacement therapy with alglucerase.

Young E, Chatterton C, Vellodi A, Winchester B. Young E, et al. J Inherit Metab Dis. 1997 Aug;20(4):595-602. doi: 10.1023/a:1005367328003. J Inherit Metab Dis. 1997. PMID: 9266398 Clinical Trial.

10

Pre- and postnatal diagnosis of patients with CLN1 and CLN2 by assay of palmitoyl-protein thioesterase and tripeptidyl-peptidase I activities.

Young EP, Worthington VC, Jackson M, Winchester BG. Young EP, et al. Eur J Paediatr Neurol. 2001;5 Suppl A:193-6. doi: 10.1053/ejpn.2000.0461. Eur J Paediatr Neurol. 2001. PMID: 11588996

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