Literature DB >> 9323578

L-2-Hydroxyglutaric aciduria: normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients.

R J Wanders1, L Vilarinho, H P Hartung, G F Hoffmann, P A Mooijer, G A Jansen, J G Huijmans, J B de Klerk, H J ten Brink, C Jakobs, M Duran.   

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Year:  1997        PMID： 9323578     DOI： 10.1023/a:1005355316599

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


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  5 in total

Review 1.  Cerebral neoplasms in L-2 hydroxyglutaric aciduria: 3 new cases and meta-analysis of literature data.

Authors:  Z Patay; J C Mills; U Löbel; A Lambert; A Sablauer; D W Ellison
Journal:  AJNR Am J Neuroradiol       Date:  2012-01-12       Impact factor: 3.825

Review 2.  L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair.

Authors:  E Van Schaftingen; R Rzem; M Veiga-da-Cunha
Journal:  J Inherit Metab Dis       Date:  2008-11-21       Impact factor: 4.982

3.  A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria.

Authors:  Rim Rzem; Maria Veiga-da-Cunha; Gaëtane Noël; Sophie Goffette; Marie-Cécile Nassogne; Brahim Tabarki; Christina Schöller; Thorsten Marquardt; Miikka Vikkula; Emile Van Schaftingen
Journal:  Proc Natl Acad Sci U S A       Date:  2004-11-17       Impact factor: 11.205

Review 4.  Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria.

Authors:  Marine Jequier Gygax; Eliane Roulet-Perez; Kathleen Meagher-Villemure; Cornelis Jakobs; Gajja S Salomons; Olivier Boulat; Andrea Superti-Furga; Diana Ballhausen; Luisa Bonafé
Journal:  Eur J Pediatr       Date:  2008-11-13       Impact factor: 3.183

5.  Fermentative Production of l-2-Hydroxyglutarate by Engineered Corynebacterium glutamicum via Pathway Extension of l-Lysine Biosynthesis.

Authors:  Carina Prell; Arthur Burgardt; Florian Meyer; Volker F Wendisch
Journal:  Front Bioeng Biotechnol       Date:  2021-01-27
  5 in total

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