Manning NJ - Search Results

1

Features of carnitine palmitoyltransferase type I deficiency.

Olpin SE, Allen J, Bonham JR, Clark S, Clayton PT, Calvin J, Downing M, Ives K, Jones S, Manning NJ, Pollitt RJ, Standing SJ, Tanner MS. Olpin SE, et al. Among authors: manning nj. J Inherit Metab Dis. 2001 Feb;24(1):35-42. doi: 10.1023/a:1005694320063. J Inherit Metab Dis. 2001. PMID: 11286380

2

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: manning nj. J Inherit Metab Dis. 1992;15(6):883-90. doi: 10.1007/BF01800227. J Inherit Metab Dis. 1992. PMID: 1293385

3

A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts.

Manning NJ, Olpin SE, Pollitt RJ, Webley J. Manning NJ, et al. J Inherit Metab Dis. 1990;13(1):58-68. doi: 10.1007/BF01799333. J Inherit Metab Dis. 1990. PMID: 2109149

4

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

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

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: manning nj. 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: manning nj. 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

Normal acylcarnitines in maternal urine during a pregnancy affected by glutaric aciduria type II.

Manning NJ, Bonham JR, Downing M, Edwards RG, Olpin SE, Pollitt RJ, Pourfarzam M, Sharrard MJ, Tanner MS. Manning NJ, et al. J Inherit Metab Dis. 1999 Feb;22(1):88-9. doi: 10.1023/a:1005467803802. J Inherit Metab Dis. 1999. PMID: 10070625 No abstract available.

8

Fumarate hydratase deficiency: increased fumaric acid in amniotic fluid of two affected pregnancies.

Manning NJ, Olpin SE, Pollitt RJ, Downing M, Heeley AF, Young ID. Manning NJ, et al. J Inherit Metab Dis. 2000 Nov;23(7):757-9. doi: 10.1023/a:1005667906032. J Inherit Metab Dis. 2000. PMID: 11117439 No abstract available.

9

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: manning nj. J Inherit Metab Dis. 2002 Oct;25(6):477-82. doi: 10.1023/a:1021251202287. J Inherit Metab Dis. 2002. PMID: 12555940

10

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: manning nj. J Inherit Metab Dis. 2003;26(6):543-57. doi: 10.1023/a:1025947930752. J Inherit Metab Dis. 2003. PMID: 14605500

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