Literature DB >> 10384387

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

B S Andresen1, 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.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1999        PMID： 10384387     DOI： 10.1023/a:1005558828223

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


× No keyword cloud information.
  10 in total

1.  Two novel nonradioactive polymerase chain reaction-based assays of dried blood spots, genomic DNA, or whole cells for fast, reliable detection of Z and S mutations in the alpha 1-antitrypsin gene.

Authors:  B S Andresen; I Knudsen; P K Jensen; K Rasmussen; N Gregersen
Journal:  Clin Chem       Date:  1992-10       Impact factor: 8.327

2.  Very long chain acyl-coenzyme A dehydrogenase deficiency in two siblings: evolution after prenatal diagnosis and prompt management.

Authors:  T Sluysmans; D Tuerlinckx; C Hubinont; C Verellen-Dumoulin; M Brivet; C Vianey-Saban
Journal:  J Pediatr       Date:  1997-09       Impact factor: 4.406

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

Authors:  B S Andresen; C Vianey-Saban; P Bross; P Divry; C R Roe; M A Nada; I Knudsen; N Gregersen
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

5.  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

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

Authors:  S E Olpin; N J Manning; R J Pollitt; S Clarke
Journal:  J Inherit Metab Dis       Date:  1997-07       Impact factor: 4.982

7.  Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy.

Authors:  M C Brown-Harrison; M A Nada; H Sprecher; C Vianey-Saban; J Farquhar; A C Gilladoga; C R Roe
Journal:  Biochem Mol Med       Date:  1996-06

8.  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

9.  Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene.

Authors:  B S Andresen; P Bross; C Vianey-Saban; P Divry; M T Zabot; C R Roe; M A Nada; A Byskov; T A Kruse; S Neve; K Kristiansen; I Knudsen; M J Corydon; N Gregersen
Journal:  Hum Mol Genet       Date:  1996-04       Impact factor: 6.150

10.  Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood.

Authors:  N Gregersen; V Winter; P K Jensen; A Holmskov; S Kølvraa; B S Andresen; E Christensen; P Bross; J B Lundemose; M Gregersen
Journal:  Prenat Diagn       Date:  1995-01       Impact factor: 3.050
  10 in total
  1 in total

Review 1.  Very long-chain acyl-CoA dehydrogenase (VLCAD-) deficiency-studies on treatment effects and long-term outcomes in mouse models.

Authors:  Sara Tucci
Journal:  J Inherit Metab Dis       Date:  2017-02-28       Impact factor: 4.982
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.