Literature DB >> 12872844

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

E P Treacy1, A Lee-Chong, G Roche, B Lynch, S Ryan, S Goodman.   

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Year:  2003        PMID： 12872844     DOI： 10.1023/a:1024087832406

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


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  3 in total

1.  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

2.  Mutation analysis in glutaric aciduria type I.

Authors:  J Zschocke; E Quak; P Guldberg; G F Hoffmann
Journal:  J Med Genet       Date:  2000-03       Impact factor: 6.318

3.  Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria.

Authors:  W L Nyhan; J Zschocke; G Hoffmann; D E Stein; L Bao; S Goodman
Journal:  Mol Genet Metab       Date:  1999-03       Impact factor: 4.797
  3 in total
  10 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.  An improved LC-MS/MS method for the detection of classic and low excretor glutaric acidemia type 1.

Authors:  Tereza Moore; Anthony Le; Tina M Cowan
Journal:  J Inherit Metab Dis       Date:  2011-10-18       Impact factor: 4.982

3.  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

Review 4.  Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.

Authors:  Nikolas Boy; Chris Mühlhausen; Esther M Maier; Jana Heringer; Birgit Assmann; Peter Burgard; Marjorie Dixon; Sandra Fleissner; Cheryl R Greenberg; Inga Harting; Georg F Hoffmann; Daniela Karall; David M Koeller; Michael B Krawinkel; Jürgen G Okun; Thomas Opladen; Roland Posset; Katja Sahm; Johannes Zschocke; Stefan Kölker
Journal:  J Inherit Metab Dis       Date:  2016-11-16       Impact factor: 4.982

5.  Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1.

Authors:  Karolina M Stepien; Gregory M Pastores; Una Hendroff; Ciara McCormick; Patricia Fitzimons; Naveed Khawaja; Ingrid Borovickova; Eileen P Treacy
Journal:  JIMD Rep       Date:  2018-01-03

Review 6.  Neonatal screening for glutaric aciduria type I: strategies to proceed.

Authors:  M Lindner; S Ho; J Fang-Hoffmann; G F Hoffmann; S Kölker
Journal:  J Inherit Metab Dis       Date:  2006 Apr-Jun       Impact factor: 4.982

7.  Glutaric aciduria type I: outcome in the Republic of Ireland.

Authors:  E R Naughten; P D Mayne; A A Monavari; S I Goodman; G Sulaiman; D T Croke
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

8.  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

Review 9.  Diagnosis and management of glutaric aciduria type I--revised recommendations.

Authors:  Stefan Kölker; Ernst Christensen; James V Leonard; Cheryl R Greenberg; Avihu Boneh; Alberto B Burlina; Alessandro P Burlina; Marjorie Dixon; Marinus Duran; Angels García Cazorla; Stephen I Goodman; David M Koeller; Mårten Kyllerman; Chris Mühlhausen; Edith Müller; Jürgen G Okun; Bridget Wilcken; Georg F Hoffmann; Peter Burgard
Journal:  J Inherit Metab Dis       Date:  2011-03-23       Impact factor: 4.982

10.  Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.

Authors:  Johannes Spenger; Esther M Maier; Katharina Wechselberger; Florian Bauder; Melanie Kocher; Wolfgang Sperl; Martin Preisel; Katharina A Schiergens; Vassiliki Konstantopoulou; Wulf Röschinger; Johannes Häberle; Thomas Schmitt-Mechelke; Saskia B Wortmann; Ralph Fingerhut
Journal:  Int J Neonatal Screen       Date:  2021-06-18
  10 in total

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