Winchester BG - Search Results

1

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. Among authors: winchester bg. Eur J Paediatr Neurol. 2001;5 Suppl A:193-6. doi: 10.1053/ejpn.2000.0461. Eur J Paediatr Neurol. 2001. PMID: 11588996

2

Exclusion of late infantile neuronal ceroid lipofuscinosis (LINCL) in a fetus by assay of tripeptidyl peptidase I in chorionic villi.

Young EP, Winchester BG, Peter Logan W, Wheeler RB, Lake BD. Young EP, et al. Among authors: winchester bg. Prenat Diagn. 2000 Apr;20(4):337-9. Prenat Diagn. 2000. PMID: 10740208

3

Prenatal diagnosis of lysosomal storage diseases.

Lake BD, Young EP, Winchester BG. Lake BD, et al. Among authors: winchester bg. Brain Pathol. 1998 Jan;8(1):133-49. doi: 10.1111/j.1750-3639.1998.tb00141.x. Brain Pathol. 1998. PMID: 9458172 Free PMC article.

4

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: winchester bg. 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.

5

Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I).

Jackson M, Clayton P, Grunewald S, Keir G, Mills K, Mills P, Winchester B, Worthington V, Young E. Jackson M, et al. J Inherit Metab Dis. 2005;28(6):1197-8. doi: 10.1007/s10545-005-0157-z. J Inherit Metab Dis. 2005. PMID: 16435229

6

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: winchester bg. 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

7

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: winchester bg. Hum Genet. 2001 Nov;109(5):503-11. doi: 10.1007/s004390100606. Epub 2001 Oct 19. Hum Genet. 2001. PMID: 11735025

8

Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).

Beesley CE, Jackson M, Young EP, Vellodi A, Winchester BG. Beesley CE, et al. Among authors: winchester bg. J Inherit Metab Dis. 2005;28(5):759-67. doi: 10.1007/s10545-005-0093-y. J Inherit Metab Dis. 2005. PMID: 16151907

9

Prenatal diagnosis of enzyme defects--an update.

Winchester B, Young E. Winchester B, et al. Arch Dis Child. 1991 Apr;66(4 Spec No):451-4. doi: 10.1136/adc.66.4_spec_no.451. Arch Dis Child. 1991. PMID: 2025044 Free PMC article. Review. No abstract available.

10

Prenatal diagnosis of the carbohydrate-deficient glycoprotein syndrome type 1A (CDG1A) by a combination of enzymology and genetic linkage analysis after amniocentesis or chorionic villus sampling.

Charlwood J, Clayton P, Keir G, Mian N, Young E, Winchester B. Charlwood J, et al. Prenat Diagn. 1998 Jul;18(7):693-9. Prenat Diagn. 1998. PMID: 9706650

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