Literature DB >> 15314137

Dystonia, tremor, and parkinsonism in a 54 year old man with 2-hydroxyglutaric aciduria.

W E Owens, M S Okun.   

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Year:  2004        PMID： 15314137      PMCID： PMC1739223          DOI： 10.1136/jnnp.2003.033571

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  4 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

2.  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 3.  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

Review 4.  Leukoencephalopathies associated with inborn errors of metabolism in adults.

Authors:  F Sedel; A Tourbah; B Fontaine; C Lubetzki; N Baumann; J-M Saudubray; O Lyon-Caen
Journal:  J Inherit Metab Dis       Date:  2008-02-25       Impact factor: 4.750
  4 in total

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