Literature DB >> 15192029

Direct nonisotopic assay of 3-methylglutaconyl-CoA hydratase in cultured human skin fibroblasts to specifically identify patients with 3-methylglutaconic aciduria type I.

Ference J Loupatty1, Jos P N Ruiter, Lodewijk IJlst, Marinus Duran, Ronald J A Wanders.   

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Year:  2004        PMID： 15192029     DOI： 10.1373/clinchem.2004.033142

Source DB:  PubMed          Journal:  Clin Chem        ISSN： 0009-9147            Impact factor:   8.327


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  4 in total

1.  Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: relevance to D-2-hydroxyglutaric and gamma-hydroxybutyric acidurias.

Authors:  E A Struys; N M Verhoeven; H J Ten Brink; W V Wickenhagen; K M Gibson; C Jakobs
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

2.  Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.

Authors:  Gabriella Di Rosa; Federica Deodato; Ference J Loupatty; Cristiano Rizzo; Rosalba Carrozzo; Filippo M Santorelli; Sara Boenzi; Adele D'Amico; Giulia Tozzi; Enrico Bertini; Andrea Maiorana; Ronald J A Wanders; Carlo Dionisi-Vici
Journal:  J Inherit Metab Dis       Date:  2006-05-30       Impact factor: 4.982

Review 3.  Metabolic biology of 3-methylglutaconic acid-uria: a new perspective.

Authors:  Betty Su; Robert O Ryan
Journal:  J Inherit Metab Dis       Date:  2014-01-10       Impact factor: 4.982

4.  The subsystems approach to genome annotation and its use in the project to annotate 1000 genomes.

Authors:  Ross Overbeek; Tadhg Begley; Ralph M Butler; Jomuna V Choudhuri; Han-Yu Chuang; Matthew Cohoon; Valérie de Crécy-Lagard; Naryttza Diaz; Terry Disz; Robert Edwards; Michael Fonstein; Ed D Frank; Svetlana Gerdes; Elizabeth M Glass; Alexander Goesmann; Andrew Hanson; Dirk Iwata-Reuyl; Roy Jensen; Neema Jamshidi; Lutz Krause; Michael Kubal; Niels Larsen; Burkhard Linke; Alice C McHardy; Folker Meyer; Heiko Neuweger; Gary Olsen; Robert Olson; Andrei Osterman; Vasiliy Portnoy; Gordon D Pusch; Dmitry A Rodionov; Christian Rückert; Jason Steiner; Rick Stevens; Ines Thiele; Olga Vassieva; Yuzhen Ye; Olga Zagnitko; Veronika Vonstein
Journal:  Nucleic Acids Res       Date:  2005-10-07       Impact factor: 16.971
  4 in total

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