Literature DB >> 1137568

Glutaric aciduria; a "new" disorder of amino acid metabolism.

S I Goodman, S P Markey, P G Moe, B S Miles, C C Teng.   

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Year:  1975        PMID： 1137568     DOI： 10.1016/0006-2944(75)90091-5

Source DB:  PubMed          Journal:  Biochem Med        ISSN： 0006-2944


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  82 in total

1.  Biochemistry of glutaric aciduria type I: activities of in vitro expressed wild-type and mutant cDNA encoding human glutaryl-CoA dehydrogenase.

Authors:  M Liesert; J Zschocke; G F Hoffmann; N Mühlhäuser; W Buckel
Journal:  J Inherit Metab Dis       Date:  1999-05       Impact factor: 4.982

2.  Glutaric aciduria in two brothers.

Authors:  N J Brandt; N Gregersen; E Christensen; K Rasmussen
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

3.  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

4.  Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management.

Authors:  A A Monavari; E R Naughten
Journal:  Arch Dis Child       Date:  2000-01       Impact factor: 3.791

5.  The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Authors:  Stefan Kölker; Vassili Valayannopoulos; Alberto B Burlina; Jolanta Sykut-Cegielska; Frits A Wijburg; Elisa Leão Teles; Jiri Zeman; Carlo Dionisi-Vici; Ivo Barić; Daniela Karall; Jean-Baptiste Arnoux; Paula Avram; Matthias R Baumgartner; Javier Blasco-Alonso; S P Nikolas Boy; Marlene Bøgehus Rasmussen; Peter Burgard; Brigitte Chabrol; Anupam Chakrapani; Kimberly Chapman; Elisenda Cortès I Saladelafont; Maria L Couce; Linda de Meirleir; Dries Dobbelaere; Francesca Furlan; Florian Gleich; Maria Julieta González; Wanda Gradowska; Stephanie Grünewald; Tomas Honzik; Friederike Hörster; Hariklea Ioannou; Anil Jalan; Johannes Häberle; Gisela Haege; Eveline Langereis; Pascale de Lonlay; Diego Martinelli; Shirou Matsumoto; Chris Mühlhausen; Elaine Murphy; Hélène Ogier de Baulny; Carlos Ortez; Consuelo C Pedrón; Guillem Pintos-Morell; Luis Pena-Quintana; Danijela Petković Ramadža; Esmeralda Rodrigues; Sabine Scholl-Bürgi; Etienne Sokal; Marshall L Summar; Nicholas Thompson; Roshni Vara; Inmaculada Vives Pinera; John H Walter; Monique Williams; Allan M Lund; Angeles Garcia-Cazorla; Angeles Garcia Cazorla
Journal:  J Inherit Metab Dis       Date:  2015-04-15       Impact factor: 4.982

6.  Adult-onset glutaric aciduria type I presenting with white matter abnormalities and subependymal nodules.

Authors:  T M Pierson; Mani Nezhad; Matthew A Tremblay; Richard Lewis; Derek Wong; Noriko Salamon; Nancy Sicotte
Journal:  Neurogenetics       Date:  2015-08-29       Impact factor: 2.660

7.  Infant mice with glutaric acidaemia type I have increased vulnerability to 3-nitropropionic acid toxicity.

Authors:  K B Bjugstad; L S Crnic; S I Goodman; C R Freed
Journal:  J Inherit Metab Dis       Date:  2006-08-30       Impact factor: 4.982

8.  Specific glutaryl-CoA dehydrogenating activity is deficient in cultured fibroblasts from glutaric aciduria patients.

Authors:  D B Hyman; K Tanaka
Journal:  J Clin Invest       Date:  1984-03       Impact factor: 14.808

9.  Symptoms and signs in organic acidurias.

Authors:  N J Brandt
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

10.  Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients.

Authors:  Sven F Garbade; Cheryl R Greenberg; Mübeccel Demirkol; Gülden Gökçay; Antonia Ribes; Jaume Campistol; Alberto B Burlina; Peter Burgard; Stefan Kölker
Journal:  J Inherit Metab Dis       Date:  2014-05-09       Impact factor: 4.982
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