Literature DB >> 9266361

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

E Christensen1, A Ribes, C Busquets, M Pineda, M Duran, B T Poll-The, C R Greenberg, H Leffers, M Schwartz.   

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Year:  1997        PMID： 9266361     DOI： 10.1023/a:1005390214391

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


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  7 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 segregation of glutaryl-CoA dehydrogenase deficiency and Refsum syndrome in a family.

Authors:  E Christensen; N J Brandt; T Rosenberg; K Bömers; C Jakobs
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

3.  A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I.

Authors:  C R Greenberg; D Reimer; R Singal; B Triggs-Raine; A E Chudley; L A Dilling; S Philipps; J C Haworth; L E Seargeant; S I Goodman
Journal:  Hum Mol Genet       Date:  1995-03       Impact factor: 6.150

4.  Improved assay of glutaryl-CoA dehydrogenase in cultured cells and liver: application to glutaric aciduria type I.

Authors:  E Christensen
Journal:  Clin Chim Acta       Date:  1983-03-28       Impact factor: 3.786

5.  3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment.

Authors:  M Duran; R J Wanders; J P de Jager; L Dorland; L Bruinvis; D Ketting; L Ijlst; F J van Sprang
Journal:  Eur J Pediatr       Date:  1991-01       Impact factor: 3.183

6.  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

7.  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
  7 in total
  13 in total

1.  Profound neurological presentation resulting from homozygosity for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype.

Authors:  E P Treacy; A Lee-Chong; G Roche; B Lynch; S Ryan; S Goodman
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

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

Authors:  C Busquets; M J Coll; E Christensen; J Campistol; N Clusellas; M A Vilaseca; A Ribes
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

3.  Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation.

Authors:  M J Fraidakis; C Liadinioti; L Stefanis; A Dinopoulos; R Pons; M Papathanassiou; J Garcia-Villoria; A Ribes
Journal:  JIMD Rep       Date:  2014-09-26

4.  Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene.

Authors:  Angela Sitta; Gilian Guerreiro; Daniella de Moura Coelho; Vitoria Volfart da Rocha; Bianca Gomes Dos Reis; Carmen Sousa; Laura Vilarinho; Moacir Wajner; Carmen Regla Vargas
Journal:  Metab Brain Dis       Date:  2020-10-16       Impact factor: 3.584

Review 5.  Glutaric aciduria type I: from clinical, biochemical and molecular diversity to successful therapy.

Authors:  G F Hoffmann; J Zschocke
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

6.  Komrower lecture: Treatment of inborn errors of metabolism: a review.

Authors:  J V Leonard
Journal:  J Inherit Metab Dis       Date:  2006 Apr-Jun       Impact factor: 4.982

7.  Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.

Authors:  E Christensen; A Ribes; B Merinero; J Zschocke
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

8.  Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients.

Authors:  Neerja Gupta; Pawan Kumar Singh; Manoj Kumar; Shivaram Shastri; Sheffali Gulati; Atin Kumar; Anuja Agarwala; Seema Kapoor; Mohandas Nair; Savita Sapra; Sudhisha Dubey; Ankur Singh; Punit Kaur; Madhulika Kabra
Journal:  JIMD Rep       Date:  2015-03-12

Review 9.  Diagnosis and management of glutaric aciduria type I.

Authors:  I Barić; J Zschocke; E Christensen; M Duran; S I Goodman; J V Leonard; E Müller; D H Morton; A Superti-Furga; G F Hoffmann
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

10.  3-Hydroxyglutarate excretion is increased in ketotic patients: implications for glutaryl-CoA dehydrogenase deficiency testing.

Authors:  J Pitt; K Carpenter; B Wilcken; A Boneh
Journal:  J Inherit Metab Dis       Date:  2002-05       Impact factor: 4.982
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