Olpin S - Search Results

1

Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency.

Salomons GS, Jakobs C, Pope LL, Errami A, Potter M, Nowaczyk M, Olpin S, Manning N, Raiman JA, Slade T, Champion MP, Peck D, Gavrilov D, Hillman R, Hoganson GE, Donaldson K, Shield JP, Ketteridge D, Wasserstein M, Gibson KM. Salomons GS, et al. Among authors: olpin s. J Inherit Metab Dis. 2007 Feb;30(1):23-8. doi: 10.1007/s10545-006-0514-6. Epub 2006 Dec 20. J Inherit Metab Dis. 2007. PMID: 17186413

2

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

3

Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.

Olpin SE, Clark S, Andresen BS, Bischoff C, Olsen RK, Gregersen N, Chakrapani A, Downing M, Manning NJ, Sharrard M, Bonham JR, Muntoni F, Turnbull DN, Pourfarzam M. Olpin SE, et al. J Inherit Metab Dis. 2005;28(4):533-44. doi: 10.1007/s10545-005-0533-8. J Inherit Metab Dis. 2005. PMID: 15902556

4

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. Among authors: olpin se. J Inherit Metab Dis. 1990;13(1):58-68. doi: 10.1007/BF01799333. J Inherit Metab Dis. 1990. PMID: 2109149

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. 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

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: olpin se. J Inherit Metab Dis. 1994;17(3):279-82. doi: 10.1007/BF00711807. J Inherit Metab Dis. 1994. PMID: 7807933 No abstract available.

7

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

8

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. 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.

9

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: olpin se. 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.

10

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

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