Worthington V - Search Results

1

N-acetylglutamate synthetase deficiency: favourable experience with carbamylglutamate.

Morris AA, Richmond SW, Oddie SJ, Pourfarzam M, Worthington V, Leonard JV. Morris AA, et al. Among authors: worthington v. J Inherit Metab Dis. 1998 Dec;21(8):867-8. doi: 10.1023/a:1005478904186. J Inherit Metab Dis. 1998. PMID: 9870213 No abstract available.

2

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: worthington v. J Inherit Metab Dis. 2000 Mar;23(2):162-74. doi: 10.1023/a:1005669900330. J Inherit Metab Dis. 2000. PMID: 10801058 Clinical Trial.

3

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

4

Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose.

Hendriksz CJ, McClean P, Henderson MJ, Keir DG, Worthington VC, Imtiaz F, Schollen E, Matthijs G, Winchester BG. Hendriksz CJ, et al. Among authors: worthington vc. Arch Dis Child. 2001 Oct;85(4):339-40. doi: 10.1136/adc.85.4.339. Arch Dis Child. 2001. PMID: 11567948 Free PMC article.

5

Diagnosis of congenital disorders of glycosylation type-I using protein chip technology.

Mills K, Mills P, Jackson M, Worthington V, Beesley C, Mann A, Clayton P, Grunewald S, Keir G, Young L, Langridge J, Mian N, Winchester B. Mills K, et al. Among authors: worthington v. Proteomics. 2006 Apr;6(7):2295-304. doi: 10.1002/pmic.200500682. Proteomics. 2006. PMID: 16552784

6

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: worthington vc. Eur J Paediatr Neurol. 2001;5 Suppl A:193-6. doi: 10.1053/ejpn.2000.0461. Eur J Paediatr Neurol. 2001. PMID: 11588996

7

A new method for the rapid diagnosis of protein N-linked congenital disorders of glycosylation.

Heywood WE, Mills P, Grunewald S, Worthington V, Jaeken J, Carreno G, Lemonde H, Clayton PT, Mills K. Heywood WE, et al. Among authors: worthington v. J Proteome Res. 2013 Jul 5;12(7):3471-9. doi: 10.1021/pr400328g. Epub 2013 Jun 17. J Proteome Res. 2013. PMID: 23742123

8

Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation.

Heywood WE, Bliss E, Mills P, Yuzugulen J, Carreno G, Clayton PT, Muntoni F, Worthington VC, Torelli S, Sebire NJ, Mills K, Grunewald S. Heywood WE, et al. Among authors: worthington vc. Mol Genet Metab Rep. 2016 Apr 17;7:55-62. doi: 10.1016/j.ymgmr.2016.03.002. eCollection 2016 Jun. Mol Genet Metab Rep. 2016. PMID: 27134828 Free PMC article.

9

Higher frequencies of HLA DQB1*05:01 and anti-glycosphingolipid antibodies in a cluster of severe Guillain-Barré syndrome.

Schirmer L, Worthington V, Solloch U, Loleit V, Grummel V, Lakdawala N, Grant D, Wassmuth R, Schmidt AH, Gebhardt F, Andlauer TF, Sauter J, Berthele A, Lunn MP, Hemmer B. Schirmer L, et al. Among authors: worthington v. J Neurol. 2016 Oct;263(10):2105-13. doi: 10.1007/s00415-016-8237-6. Epub 2016 Aug 2. J Neurol. 2016. PMID: 27485170

10

Neuroimaging in encephalitis: analysis of imaging findings and interobserver agreement.

Granerod J, Davies NWS, Mukonoweshuro W, Mehta A, Das K, Lim M, Solomon T, Biswas S, Rosella L, Brown DWG, Crowcroft NS; UK Public Health England Aetiology of Encephalitis Study Group. Granerod J, et al. Clin Radiol. 2016 Oct;71(10):1050-1058. doi: 10.1016/j.crad.2016.03.015. Epub 2016 May 13. Clin Radiol. 2016. PMID: 27185323 Free PMC article.

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