Literature DB >> 8739957

The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency.

B S Andresen1, C Vianey-Saban, P Bross, P Divry, C R Roe, M A Nada, I Knudsen, N Gregersen.   

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Year:  1996        PMID： 8739957     DOI： 10.1007/bf01799421

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


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  6 in total

1.  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

2.  Hypoglycemia, hypotonia, and cardiomyopathy: the evolving clinical picture of long-chain acyl-CoA dehydrogenase deficiency.

Authors:  W R Treem; C A Stanley; D E Hale; H B Leopold; J S Hyams
Journal:  Pediatrics       Date:  1991-03       Impact factor: 7.124

3.  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

4.  Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli.

Authors:  N Gregersen; B S Andresen; P Bross; V Winter; N Rüdiger; S Engst; E Christensen; D Kelly; A W Strauss; S Kølvraa
Journal:  Hum Genet       Date:  1991-04       Impact factor: 4.132

5.  Crystal structures of medium-chain acyl-CoA dehydrogenase from pig liver mitochondria with and without substrate.

Authors:  J J Kim; M Wang; R Paschke
Journal:  Proc Natl Acad Sci U S A       Date:  1993-08-15       Impact factor: 11.205

6.  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
  6 in total
  7 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.  Strategies for correcting very long chain acyl-CoA dehydrogenase deficiency.

Authors:  Margarita Tenopoulou; Jie Chen; Jean Bastin; Michael J Bennett; Harry Ischiropoulos; Paschalis-Thomas Doulias
Journal:  J Biol Chem       Date:  2015-03-03       Impact factor: 5.157

3.  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

Review 4.  Inborn errors of energy metabolism associated with myopathies.

Authors:  Anibh M Das; Ulrike Steuerwald; Sabine Illsinger
Journal:  J Biomed Biotechnol       Date:  2010-05-26

5.  Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency.

Authors:  Manuel Schiff; Al-Walid Mohsen; Anuradha Karunanidhi; Elizabeth McCracken; Renita Yeasted; Jerry Vockley
Journal:  Mol Genet Metab       Date:  2013-02-13       Impact factor: 4.797

6.  Rhabdomyolysis as a presenting manifestation of very long-chain acyl-coenzyme a dehydrogenase deficiency.

Authors:  Sara Freitas Oliveira; Liliana Pinho; Hugo Rocha; Célia Nogueira; Laura Vilarinho; Maria José Dinis; Conceição Silva
Journal:  Clin Pract       Date:  2013-08-06

7.  Pervasive inflammatory activation in patients with deficiency in very-long-chain acyl-coA dehydrogenase (VLCADD).

Authors:  Abbe N Vallejo; Henry J Mroczkowski; Joshua J Michel; Michael Woolford; Harry C Blair; Patricia Griffin; Elizabeth McCracken; Stephanie J Mihalik; Miguel Reyes-Mugica; Jerry Vockley
Journal:  Clin Transl Immunology       Date:  2021-06-27
  7 in total

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