Literature DB >> 10686474

An adult form of L-2-hydroxyglutaric aciduria revealed by tremor.

C Clerc1, M Bataillard, P Richard, P Divry, J Kraehenbuhl, L Rumbach.   

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Year:  2000        PMID： 10686474     DOI： 10.1159/000008149

Source DB:  PubMed          Journal:  Eur Neurol        ISSN： 0014-3022            Impact factor:   1.710


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  6 in total

1.  L-2-hydroxyglutaric aciduria diagnosed in an adult presenting with acute deterioration.

Authors:  Shiv Saidha; Sinead Murphy; Peter McCarthy; Philip D Mayne; Michael Hennessy
Journal:  J Neurol       Date:  2010-01       Impact factor: 4.849

Review 2.  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

3.  L-2-hydroxyglutaric aciduria: clinical and molecular study in three Tunisian families. Identification of a new mutation and inter-familial phenotype variability.

Authors:  A Larnaout; R Amouri; M Kefi; F Hentati
Journal:  J Inherit Metab Dis       Date:  2008-09-13       Impact factor: 4.982

4.  L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene.

Authors:  J O Sass; F Jobard; M Topçu; A Mahfoud; E Werlé; S Cure; N Al-Sannaa; S A Alshahwan; M Bataillard; L Cimbalistiene; C Grolik; V Kemmerich; H Omran; L Sztriha; M Tabache; J Fischer
Journal:  J Inherit Metab Dis       Date:  2008-04-14       Impact factor: 4.982

Review 5.  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

6.  Postural tremor in L-2-hydroxyglutaric aciduria is associated with cerebellar atrophy.

Authors:  Aysegul Gunduz; Ayse Cigdem Aktuglu-Zeybek; Damla Tezer; Ece Oge Enver; Tanyel Zubarioglu; Ertugrul Kiykim; Meral E Kiziltan
Journal:  Neurol Sci       Date:  2021-08-24       Impact factor: 3.307
  6 in total

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