Pollitt RJ - Search Results

1

Problems in the detection of fatty acid oxidation defects: experience of a quality assurance programme for qualitative urinary organic acid analysis.

Downing M, Allen JC, Bonham JR, Edwards RG, Manning NJ, Olpin SE, Pollitt RJ. Downing M, et al. Among authors: pollitt rj. J Inherit Metab Dis. 1999 May;22(3):289-92. doi: 10.1023/a:1005575214110. J Inherit Metab Dis. 1999. PMID: 10384389 No abstract available.

2

Prenatal diagnosis of a defect in medium-chain fatty acid oxidation.

Pollitt RJ, Manning NJ, Olpin SE, Young ID. Pollitt RJ, et al. J Inherit Metab Dis. 1994;17(3):279-82. doi: 10.1007/BF00711807. J Inherit Metab Dis. 1994. PMID: 7807933 No abstract available.

3

6-Methyluracil excretion in 2-methylacetoacetyl-CoA thiolase deficiency and in two children with an unexplained recurrent ketoacidaemia.

Cromby CH, Manning NJ, Pollitt RJ, Powell S, Bennett MJ. Cromby CH, et al. Among authors: pollitt rj. J Inherit Metab Dis. 1994;17(1):81-4. doi: 10.1007/BF00735400. J Inherit Metab Dis. 1994. PMID: 7914250

4

Quality assessment of urinary organic acid analysis.

Bonham JR, Downing M, Pollitt RJ, Manning NJ, Carpenter KH, Olpin SE, Allen JC, Worthy E. Bonham JR, et al. Among authors: pollitt rj. Ann Clin Biochem. 1994 Mar;31 ( Pt 2):129-33. doi: 10.1177/000456329403100203. Ann Clin Biochem. 1994. PMID: 8060090

5

Improved detection of long-chain fatty acid oxidation defects in intact cells using [9,10-3H]oleic acid.

Olpin SE, Manning NJ, Pollitt RJ, Clarke S. Olpin SE, et al. Among authors: pollitt rj. J Inherit Metab Dis. 1997 Jul;20(3):415-9. doi: 10.1023/a:1005358802096. J Inherit Metab Dis. 1997. PMID: 9266370 Clinical Trial. No abstract available.

6

Carnitine-acylcarnitine translocase deficiency--a mild phenotype.

Olpin SE, Bonham JR, Downing M, Manning NJ, Pollitt RJ, Sharrard MJ, Tanner MS. Olpin SE, et al. Among authors: pollitt rj. J Inherit Metab Dis. 1997 Sep;20(5):714-5. doi: 10.1023/a:1005343013873. J Inherit Metab Dis. 1997. PMID: 9323572 No abstract available.

7

The use of [9,10-3H]myristate, [9,10-3H]palmitate and [9,10-3H]oleate for the detection and diagnosis of medium and long-chain fatty acid oxidation disorders in intact cultured fibroblasts.

Olpin SE, Manning NJ, Pollitt RJ, Bonham JR, Downing M, Clark S. Olpin SE, et al. Among authors: pollitt rj. Adv Exp Med Biol. 1999;466:321-5. doi: 10.1007/0-306-46818-2_37. Adv Exp Med Biol. 1999. PMID: 10709659 No abstract available.

8

2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man.

Olpin SE, Pollitt RJ, McMenamin J, Manning NJ, Besley G, Ruiter JP, Wanders RJ. Olpin SE, et al. Among authors: pollitt rj. J Inherit Metab Dis. 2002 Oct;25(6):477-82. doi: 10.1023/a:1021251202287. J Inherit Metab Dis. 2002. PMID: 12555940

9

Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.

Olpin SE, Afifi A, Clark S, Manning NJ, Bonham JR, Dalton A, Leonard JV, Land JM, Andresen BS, Morris AA, Muntoni F, Turnbull D, Pourfarzam M, Rahman S, Pollitt RJ. Olpin SE, et al. Among authors: pollitt rj. J Inherit Metab Dis. 2003;26(6):543-57. doi: 10.1023/a:1025947930752. J Inherit Metab Dis. 2003. PMID: 14605500

10

Differential diagnosis of hydroxydicarboxylic aciduria based on release of 3H2O from [9,10-3H]myristic and [9,10-3H]palmitic acids by intact cultured fibroblasts.

Olpin SE, Manning NJ, Carpenter K, Middleton B, Pollitt RJ. Olpin SE, et al. Among authors: pollitt rj. J Inherit Metab Dis. 1992;15(6):883-90. doi: 10.1007/BF01800227. J Inherit Metab Dis. 1992. PMID: 1293385

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