Young E - Search Results

1

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. Among authors: young e. J Inherit Metab Dis. 2005;28(6):1197-8. doi: 10.1007/s10545-005-0157-z. J Inherit Metab Dis. 2005. PMID: 16435229

2

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

3

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: young ep. J Inherit Metab Dis. 2005;28(5):759-67. doi: 10.1007/s10545-005-0093-y. J Inherit Metab Dis. 2005. PMID: 16151907

4

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: young e. Prenat Diagn. 1998 Jul;18(7):693-9. Prenat Diagn. 1998. PMID: 9706650

5

Long-term follow-up following bone marrow transplantation for Hunter disease.

Vellodi A, Young E, Cooper A, Lidchi V, Winchester B, Wraith JE. Vellodi A, et al. Among authors: young e. J Inherit Metab Dis. 1999 Jun;22(5):638-48. doi: 10.1023/a:1005525931994. J Inherit Metab Dis. 1999. PMID: 10399096

6

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. Among authors: young e. J Inherit Metab Dis. 2005;28(1):35-48. doi: 10.1007/s10545-005-5263-4. J Inherit Metab Dis. 2005. PMID: 15702404

7

The molecular detection of the pseudodeficiency allele for arylsulphatase A in patients with neurological symptoms and low arylsulphatase A activity.

Goldenfum S, Malcolm S, Young E, Winchester B. Goldenfum S, et al. Among authors: young e. J Inherit Metab Dis. 1993;16(6):1048-9. doi: 10.1007/BF00711527. J Inherit Metab Dis. 1993. PMID: 7907382 No abstract available.

8

Pseudodeficiency of arylsulphatase A: strategy for clarification of genotype in families of subjects with low ASA activity and neurological symptoms.

Leistner S, Young E, Meaney C, Winchester B. Leistner S, et al. Among authors: young e. J Inherit Metab Dis. 1995;18(6):710-6. doi: 10.1007/BF02436761. J Inherit Metab Dis. 1995. PMID: 8750609

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

Prenatal diagnosis of cystinosis by quantitative measurement of cystine in chorionic villi and cultured cells.

Jackson M, Young E. Jackson M, et al. Among authors: young e. Prenat Diagn. 2005 Nov;25(11):1045-7. doi: 10.1002/pd.1249. Prenat Diagn. 2005. PMID: 16231319

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