Winchester B - Search Results

1

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. Among authors: winchester b. Prenat Diagn. 1998 Jul;18(7):693-9. Prenat Diagn. 1998. PMID: 9706650

2

A case of the carbohydrate-deficient glycoprotein syndrome type 1 (CDGS type 1) with normal phosphomannomutase activity.

Charlwood J, Clayton P, Johnson A, Keir G, Mian N, Winchester B. Charlwood J, et al. Among authors: winchester b. J Inherit Metab Dis. 1997 Nov;20(6):817-26. doi: 10.1023/a:1005380003902. J Inherit Metab Dis. 1997. PMID: 9427152

3

Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.

Imtiaz F, Worthington V, Champion M, Beesley C, Charlwood J, Clayton P, Keir G, Mian N, Winchester B. Imtiaz F, et al. Among authors: winchester b. J Inherit Metab Dis. 2000 Mar;23(2):162-74. doi: 10.1023/a:1005669900330. J Inherit Metab Dis. 2000. PMID: 10801058 Clinical Trial.

4

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.

5

Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome.

Clayton PT, Winchester BG, Keir G. Clayton PT, et al. Among authors: winchester bg. J Inherit Metab Dis. 1992;15(6):857-61. doi: 10.1007/BF01800221. J Inherit Metab Dis. 1992. PMID: 1293380

6

Carbohydrate-deficient glycoprotein syndromes: inborn errors of protein glycosylation.

Keir G, Winchester BG, Clayton P. Keir G, et al. Among authors: winchester bg. Ann Clin Biochem. 1999 Jan;36 ( Pt 1):20-36. doi: 10.1177/000456329903600103. Ann Clin Biochem. 1999. PMID: 10370757 Review.

7

Mass spectrometric analysis of glycans in elucidating the pathogenesis of CDG type IIx.

Mills PB, Mills K, Mian N, Winchester BG, Clayton PT. Mills PB, et al. Among authors: winchester bg. J Inherit Metab Dis. 2003;26(2-3):119-34. doi: 10.1023/a:1024476915278. J Inherit Metab Dis. 2003. PMID: 12889655 Review.

8

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.

9

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

10

The carbohydrate-deficient glycoprotein syndrome: an experiment of nature in glycosylation.

Winchester B, Clayton P, Mian N, di-Tomaso E, Dell A, Reason A, Keir G. Winchester B, et al. Biochem Soc Trans. 1995 Feb;23(1):185-8. doi: 10.1042/bst0230185. Biochem Soc Trans. 1995. PMID: 7758727 Review. No abstract available.

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