Duley JA - Search Results

1

Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE).

Fairbanks LD, Marinaki AM, Carrey EA, Hammans SR, Duley JA. Fairbanks LD, et al. Among authors: duley ja. J Inherit Metab Dis. 2002 Nov;25(7):603-4. doi: 10.1023/a:1022007827133. J Inherit Metab Dis. 2002. PMID: 12638947 No abstract available.

2

Urinary uracil concentrations are a useful guide to genetic disorders associated with neurological deficits and abnormal pyrimidine metabolism.

Davies PM, Fairbanks LD, Duley JA, Simmonds HA. Davies PM, et al. Among authors: duley ja. J Inherit Metab Dis. 1997 Jul;20(3):328-30. doi: 10.1023/a:1005332606213. J Inherit Metab Dis. 1997. PMID: 9266347 No abstract available.

3

Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency.

Sumi S, Marinaki AM, Arenas M, Fairbanks L, Shobowale-Bakre M, Rees DC, Thein SL, Ansari A, Sanderson J, De Abreu RA, Simmonds HA, Duley JA. Sumi S, et al. Among authors: duley ja. Hum Genet. 2002 Oct;111(4-5):360-7. doi: 10.1007/s00439-002-0798-z. Epub 2002 Aug 15. Hum Genet. 2002. PMID: 12384777

4

Mechanisms of deoxyguanosine lymphotoxicity. Human thymocytes, but not peripheral blood lymphocytes accumulate deoxy-GTP in conditions simulating purine nucleoside phosphorylase deficiency.

Fairbanks LD, Taddeo A, Duley JA, Simmonds HA. Fairbanks LD, et al. Among authors: duley ja. J Immunol. 1990 Jan 15;144(2):485-91. J Immunol. 1990. PMID: 2104895

5

When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications.

Simmonds HA, Duley JA, Fairbanks LD, McBride MB. Simmonds HA, et al. Among authors: duley ja. J Inherit Metab Dis. 1997 Jun;20(2):214-26. doi: 10.1023/a:1005308923168. J Inherit Metab Dis. 1997. PMID: 9211194 Review.

6

The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease.

Bonham JR, Guthrie P, Downing M, Allen JC, Tanner MS, Sharrard M, Rittey C, Land JM, Fensom A, O'Neill D, Duley JA, Fairbanks LD. Bonham JR, et al. Among authors: duley ja. J Inherit Metab Dis. 1999 Apr;22(2):174-84. doi: 10.1023/a:1005406205548. J Inherit Metab Dis. 1999. PMID: 10234613

7

Screening for purine and pyrimidine disorders using dried urine spots.

Fairbanks LD, Escuredo E, Duley JA, Simmonds HA. Fairbanks LD, et al. Among authors: duley ja. Adv Exp Med Biol. 2000;486:383-8. doi: 10.1007/0-306-46843-3_73. Adv Exp Med Biol. 2000. PMID: 11783520 No abstract available.

8

Nucleotide degradation products in cerebrospinal fluid (CSF) in inherited and acquired pathologies.

Fairbanks LD, Harris JC, Duley JA, Simmonds HA. Fairbanks LD, et al. Among authors: duley ja. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1185-7. doi: 10.1081/NCN-200027451. Nucleosides Nucleotides Nucleic Acids. 2004. PMID: 15571227

9

Adenylosuccinate lyase deficiency--first British case.

Marinaki AM, Champion M, Kurian MA, Simmonds HA, Marie S, Vincent MF, van den Berghe G, Duley JA, Fairbanks LD. Marinaki AM, et al. Among authors: duley ja. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1231-3. doi: 10.1081/NCN-200027494. Nucleosides Nucleotides Nucleic Acids. 2004. PMID: 15571235

10

The genetic basis of the interaction between pyrimidine 5' nucleotidase I deficiency and hemoglobin E.

Escuredo E, Marinaki AM, Duley JA, Thein SL, Rees DC. Escuredo E, et al. Among authors: duley ja. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1261-3. doi: 10.1081/NCN-200027532. Nucleosides Nucleotides Nucleic Acids. 2004. PMID: 15571242

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