Literature DB >> 9266370

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

S E Olpin1, N J Manning, R J Pollitt, S Clarke.   

Abstract

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Year:  1997        PMID： 9266370     DOI： 10.1023/a:1005358802096

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  6 in total

1.  Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid beta-oxidation.

Authors:  R J Wanders; L IJlst; A H van Gennip; C Jakobs; J P de Jager; L Dorland; F J van Sprang; M Duran
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  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.

Authors:  N J Manning; S E Olpin; R J Pollitt; J Webley
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

3.  Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.

Authors:  S V Pande; M Brivet; A Slama; F Demaugre; C Aufrant; J M Saudubray
Journal:  J Clin Invest       Date:  1993-03       Impact factor: 14.808

4.  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.

Authors:  S E Olpin; N J Manning; K Carpenter; B Middleton; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

5.  A simple spectrophotometric assay for long-chain acyl-CoA dehydrogenase activity measurements in human skin fibroblasts.

Authors:  L Ijlst; R J Wanders
Journal:  Ann Clin Biochem       Date:  1993-05       Impact factor: 2.057

6.  Rapid diagnosis of long chain and medium chain fatty acid oxidation disorders using lymphocytes.

Authors:  M Brivet; A Slama; J M Saudubray; A Legrand; A Lemonnier
Journal:  Ann Clin Biochem       Date:  1995-03       Impact factor: 2.057
  6 in total
  21 in total

1.  DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiency.

Authors:  B S Andresen; S Olpin; E A Kvittingen; P Augoustides-Savvopoulou; D Lindhout; D J Halley; C Vianey-Saban; R J Wanders; L Ijlst; L D Schroeder; L Bolund; N Gregersen
Journal:  J Inherit Metab Dis       Date:  1999-05       Impact factor: 4.982

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

Authors:  N J Manning; J R Bonham; M Downing; R G Edwards; S E Olpin; R J Pollitt; M Pourfarzam; M J Sharrard; M S Tanner
Journal:  J Inherit Metab Dis       Date:  1999-02       Impact factor: 4.982

3.  Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency.

Authors:  R K J Olsen; M Pourfarzam; A A M Morris; R C Dias; I Knudsen; B S Andresen; N Gregersen; S E Olpin
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

4.  Trifunctional protein deficiency: three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutation.

Authors:  A Chakrapani; S Olpin; M Cleary; J H Walter; J E Wraith; G T Besley
Journal:  J Inherit Metab Dis       Date:  2000-12       Impact factor: 4.982

Review 5.  Disorders of mitochondrial fatty acyl-CoA beta-oxidation.

Authors:  R J Wanders; P Vreken; M E den Boer; F A Wijburg; A H van Gennip; L IJlst
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

6.  Fatty acid oxidation in fibroblasts from patients with defects in beta-oxidation and in the respiratory chain.

Authors:  N Venizelos; U von Döbeln; L Hagenfeldt
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

7.  Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

Authors:  B S Andresen; S Olpin; B J Poorthuis; H R Scholte; C Vianey-Saban; R Wanders; L Ijlst; A Morris; M Pourfarzam; K Bartlett; E R Baumgartner; J B deKlerk; L D Schroeder; T J Corydon; H Lund; V Winter; P Bross; L Bolund; N Gregersen
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

8.  Analysis of organic acids after incubation with (16-2H3)palmitic acid in fibroblasts from patients with mitochondrial beta-oxidation defects.

Authors:  J H Osorio; M Lluch; A Ribes
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

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

Authors:  S E Olpin; A Afifi; S Clark; N J Manning; J R Bonham; A Dalton; J V Leonard; J M Land; B S Andresen; A A Morris; F Muntoni; D Turnbull; M Pourfarzam; S Rahman; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

10.  Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?

Authors:  Jillian P Casey; Ellen Crushell; Kyle Thompson; Eilish Twomey; Langping He; Sean Ennis; Roy K Philip; Robert W Taylor; Mary D King; Sally Ann Lynch
Journal:  JIMD Rep       Date:  2015-08-04
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