Literature DB >> 8739958

Mitochondrial very long-chain acyl-CoA dehydrogenase deficiency with a mild clinical course.

B Merinero1, C Pérez-Cerdá, M J Garcia, J Gangoiti, L M Font, M T Garcia Silva, C Vianey-Saban, M Duran, M Ugarte.   

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Year:  1996        PMID： 8739958     DOI： 10.1007/bf01799422

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


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  5 in total

1.  An improved and simplified radioisotopic assay for the determination of free and esterified carnitine.

Authors:  J D McGarry; D W Foster
Journal:  J Lipid Res       Date:  1976-05       Impact factor: 5.922

2.  Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts.

Authors:  C Bertrand; C Largillière; M T Zabot; M Mathieu; C Vianey-Saban
Journal:  Biochim Biophys Acta       Date:  1993-01-22

3.  Systemic carnitine deficiency: benefit of oral carnitine supplements vs. persisting biochemical abnormalities.

Authors:  M Duran; J B de Klerk; S K Wadman; H R Scholte; R P Beekman; F G Jennekens
Journal:  Eur J Pediatr       Date:  1984-08       Impact factor: 3.183

4.  A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase.

Authors:  T Aoyama; Y Uchida; R I Kelley; M Marble; K Hofman; J H Tonsgard; W J Rhead; T Hashimoto
Journal:  Biochem Biophys Res Commun       Date:  1993-03-31       Impact factor: 3.575

5.  Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients.

Authors:  T Aoyama; M Souri; S Ushikubo; T Kamijo; S Yamaguchi; R I Kelley; W J Rhead; K Uetake; K Tanaka; T Hashimoto
Journal:  J Clin Invest       Date:  1995-06       Impact factor: 14.808
  5 in total
  5 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

Review 2.  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

3.  Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency.

Authors:  B Merinero; S I Pascual Pascual; C Pérez-Cerdá; J Gangoiti; M Castro; M J Garcia; I Pascual Castroviejo; C Vianey-Saban; B Andresen; N Gregersen; M Ugarte
Journal:  J Inherit Metab Dis       Date:  1999-10       Impact factor: 4.982

4.  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

5.  Mechanistic Insights into Side Effects of Troglitazone and Rosiglitazone Using a Novel Inverse Molecular Docking Protocol.

Authors:  Katarina Kores; Janez Konc; Urban Bren
Journal:  Pharmaceutics       Date:  2021-02-28       Impact factor: 6.321
  5 in total

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