Literature DB >> 9686367

Feasibility of molecular prenatal diagnosis of glutaric aciduria type I in chorionic villi.

C Busquets1, M J Coll, E Christensen, J Campistol, N Clusellas, M A Vilaseca, A Ribes.   

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Year:  1998        PMID： 9686367     DOI： 10.1023/a:1005359920675

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


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  8 in total

1.  Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish.

Authors:  B J Biery; D E Stein; D H Morton; S I Goodman
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

2.  Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion.

Authors:  E Christensen; A Ribes; C Busquets; M Pineda; M Duran; B T Poll-The; C R Greenberg; H Leffers; M Schwartz
Journal:  J Inherit Metab Dis       Date:  1997-07       Impact factor: 4.982

3.  Glutaric aciduria type I: unusual biochemical presentation.

Authors:  J Campistol; A Ribes; L Alvarez; E Christensen; D S Millington
Journal:  J Pediatr       Date:  1992-07       Impact factor: 4.406

4.  Prenatal diagnosis of glutaryl-CoA dehydrogenase deficiency: experience using first-trimester chorionic villus sampling.

Authors:  E Christensen
Journal:  Prenat Diagn       Date:  1994-05       Impact factor: 3.050

5.  Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli.

Authors:  S I Goodman; L E Kratz; K A DiGiulio; B J Biery; K E Goodman; G Isaya; F E Frerman
Journal:  Hum Mol Genet       Date:  1995-09       Impact factor: 6.150

6.  Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency.

Authors:  B Merinero; C Pérez-Cerdá; L M Font; M J Garcia; M Aparicio; G Lorenzo; M Martinez Pardo; C Garzo; A Martinez-Bermejo; I Pascual Castroviejo
Journal:  Neuropediatrics       Date:  1995-10       Impact factor: 1.947

7.  Cloning, structure, and chromosome localization of the mouse glutaryl-CoA dehydrogenase gene.

Authors:  D M Koeller; K A DiGiulio; S V Angeloni; L L Dowler; F E Frerman; R A White; S I Goodman
Journal:  Genomics       Date:  1995-08-10       Impact factor: 5.736

8.  Antenatal diagnosis of glutaric acidemia.

Authors:  S I Goodman; D A Gallegos; C J Pullin; B Halpern; R J Truscott; G Wise; B Wilcken; E D Ryan; D T Whelen
Journal:  Am J Hum Genet       Date:  1980-09       Impact factor: 11.025
  8 in total

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