Literature DB >> 7795610

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.

C R Greenberg1, D Reimer, R Singal, B Triggs-Raine, A E Chudley, L A Dilling, S Philipps, J C Haworth, L E Seargeant, S I Goodman.   

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Year:  1995        PMID： 7795610     DOI： 10.1093/hmg/4.3.493

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  15 in total

1.  Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry.

Authors:  Osama Y Al-Dirbashi; Stefan Kölker; Dione Ng; Lawrence Fisher; Tony Rupar; Nathalie Lepage; Mohamed S Rashed; Tomofumi Santa; Stephen I Goodman; Michael T Geraghty; Johannes Zschocke; Ernst Christensen; Georg F Hoffmann; Pranesh Chakraborty
Journal:  J Inherit Metab Dis       Date:  2010-10-27       Impact factor: 4.982

2.  Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).

Authors:  S Kölker; E Christensen; J V Leonard; C R Greenberg; A B Burlina; A P Burlina; M Dixon; M Duran; S I Goodman; D M Koeller; E Müller; E R Naughten; E Neumaier-Probst; J G Okun; M Kyllerman; R A Surtees; B Wilcken; G F Hoffmann; P Burgard
Journal:  J Inherit Metab Dis       Date:  2007-01-03       Impact factor: 4.982

3.  Glutaric aciduria type I in the Arab and Jewish communities in Israel.

Authors:  Y Anikster; A Shaag; A Joseph; H Mandel; B Ben-Zeev; E Christensen; O N Elpeleg
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

4.  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

5.  Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype.

Authors:  C Bétard; A Rasquin-Weber; C Brewer; E Drouin; S Clark; A Verner; C Darmond-Zwaig; J Fortin; J Mercier; P Chagnon; T M Fujiwara; K Morgan; A Richter; T J Hudson; G A Mitchell
Journal:  Am J Hum Genet       Date:  2000-05-11       Impact factor: 11.025

6.  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

7.  A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis.

Authors:  Pierre Chagnon; Jacques Michaud; Grant Mitchell; Jocelyne Mercier; Jean-François Marion; Eric Drouin; Andrée Rasquin-Weber; Thomas J Hudson; Andrea Richter
Journal:  Am J Hum Genet       Date:  2002-11-04       Impact factor: 11.025

8.  DHTKD1 and OGDH display substrate overlap in cultured cells and form a hybrid 2-oxo acid dehydrogenase complex in vivo.

Authors:  João Leandro; Tetyana Dodatko; Jan Aten; Natalia S Nemeria; Xu Zhang; Frank Jordan; Ronald C Hendrickson; Roberto Sanchez; Chunli Yu; Robert J DeVita; Sander M Houten
Journal:  Hum Mol Genet       Date:  2020-05-08       Impact factor: 6.150

9.  Biochemistry and bioenergetics of glutaryl-CoA dehydrogenase deficiency.

Authors:  S W Sauer
Journal:  J Inherit Metab Dis       Date:  2007-09-21       Impact factor: 4.982

Review 10.  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
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