Literature DB >> 14739684

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

J H Osorio1, M Lluch, A Ribes.   

Abstract

The analysis of acylcarnitines as products of incubation of intact fibroblasts with isotope-labelled precursors, usually (16-(2)H(3))hexadecanoic acid, is an advanced in vitro method for the study of mitochondrial beta-oxidation defects. We propose a technique for the measurement of the organic acid intermediates after hydrolysis of the acylcarnitines using electron-impact gas chromatography-mass spectrometry. For some mitochondrial beta-oxidation deficiencies, the characteristic profile enables us to approach the diagnosis with clear differentiation.

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Year:  2003        PMID： 14739684     DOI： 10.1023/B:BOLI.0000009951.13315.66

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


  19 in total

1.  Significance of bound glutarate in the diagnosis of glutaric aciduria type I.

Authors:  A Ribes; E Riudor; P Briones; E Christensen; J Campistol; D S Millington
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  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.

Authors:  S E Olpin; N J Manning; R J Pollitt; J R Bonham; M Downing; S Clark
Journal:  Adv Exp Med Biol       Date:  1999       Impact factor: 2.622

3.  Prenatal diagnosis of mitochondrial fatty acid oxidation defects.

Authors:  M A Nada; C Vianey-Saban; C R Roe; J H Ding; M Mathieu; R S Wappner; M G Bialer; J A McGlynn; G Mandon
Journal:  Prenat Diagn       Date:  1996-02       Impact factor: 3.050

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.

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

5.  Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders.

Authors:  J J Shen; D Matern; D S Millington; S Hillman; M D Feezor; M J Bennett; M Qumsiyeh; S G Kahler; Y T Chen; J L Van Hove
Journal:  J Inherit Metab Dis       Date:  2000-02       Impact factor: 4.982

6.  Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients.

Authors:  C Vianey-Saban; P Divry; M Brivet; M Nada; M T Zabot; M Mathieu; C Roe
Journal:  Clin Chim Acta       Date:  1998-01-12       Impact factor: 3.786

Review 7.  Recent developments in the investigation of inherited metabolic disorders using cultured human cells.

Authors:  C R Roe; D S Roe
Journal:  Mol Genet Metab       Date:  1999-10       Impact factor: 4.797

8.  Analysis of mitochondrial fatty acid oxidation intermediates by tandem mass spectrometry from intact mitochondria prepared from homogenates of cultured fibroblasts, skeletal muscle cells, and fresh muscle.

Authors:  Tiina Tyni; Morteza Pourfarzam; Douglass M Turnbull
Journal:  Pediatr Res       Date:  2002-07       Impact factor: 3.756

9.  14C-labeled substrate catabolism by human diploid fibroblasts derived from infants and adults.

Authors:  W J Rhead; A Moon; V Roettger; K Henkle
Journal:  Biochem Med       Date:  1985-10

10.  Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation.

Authors:  R S Kler; S Jackson; K Bartlett; L A Bindoff; S Eaton; M Pourfarzam; F E Frerman; S I Goodman; N J Watmough; D M Turnbull
Journal:  J Biol Chem       Date:  1991-12-05       Impact factor: 5.157
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  1 in total

1.  Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.

Authors:  B Merinero; P Alcaide; E Martín-Hernández; A Morais; M T García-Silva; P Quijada-Fraile; C Pedrón-Giner; E Dulin; R Yahyaoui; J M Egea; A Belanger-Quintana; J Blasco-Alonso; M L Fernandez Ruano; B Besga; I Ferrer-López; F Leal; M Ugarte; P Ruiz-Sala; B Pérez; C Pérez-Cerdá
Journal:  JIMD Rep       Date:  2017-07-29
  1 in total

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