Literature DB >> 19760480

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

Shiv Saidha, Sinead Murphy, Peter McCarthy, Philip D Mayne, Michael Hennessy.   

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Year:  2010        PMID: 19760480     DOI: 10.1007/s00415-009-5319-8

Source DB:  PubMed          Journal:  J Neurol        ISSN: 0340-5354            Impact factor:   4.849


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  18 in total

1.  Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria.

Authors:  I Moroni; L D'Incerti; L Farina; M Rimoldi; G Uziel
Journal:  Neurol Sci       Date:  2000-04       Impact factor: 3.307

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

Authors:  W E Owens; M S Okun
Journal:  J Neurol Neurosurg Psychiatry       Date:  2004-09       Impact factor: 10.154

3.  L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease.

Authors:  P G Barth; G F Hoffmann; J Jaeken; W Lehnert; F Hanefeld; A H van Gennip; M Duran; J Valk; R B Schutgens; F K Trefz
Journal:  Ann Neurol       Date:  1992-07       Impact factor: 10.422

4.  L-2-Hydroxyglutaric aciduria: clinical, genetic, and brain MRI characteristics in two adult sisters.

Authors:  S M Goffette; T P Duprez; M-C L Nassogne; M-F A Vincent; C Jakobs; C J Sindic
Journal:  Eur J Neurol       Date:  2006-05       Impact factor: 6.089

5.  A novel mutation as a cause of L-2-hydroxyglutaric aciduria.

Authors:  Ged O'Connor; M King; G Salomons; C Jakobs; O Hardiman
Journal:  J Neurol       Date:  2009-04-27       Impact factor: 4.849

6.  A successfully treated adult patient with L-2-hydroxyglutaric aciduria.

Authors:  M Samuraki; K Komai; Y Hasegawa; M Kimura; S Yamaguchi; N Terada; M Yamada
Journal:  Neurology       Date:  2008-03-25       Impact factor: 9.910

7.  Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia: report of three cases in comparison with Canavan disease.

Authors:  M Topçu; G Erdem; I Saatçi; G Aktan; A Simşek; Y Renda; R B Schutgens; R J Wanders; C Jacobs
Journal:  J Child Neurol       Date:  1996-09       Impact factor: 1.987

8.  Epilepsy in a young adult caused by L-2-hydroxyglutaric aciduria: a case report.

Authors:  Vembu Periasamy; Mohd Rudwan; Girish Yadav; Riyadh A Khan
Journal:  Med Princ Pract       Date:  2008-04-10       Impact factor: 1.927

9.  L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase.

Authors:  P G Barth; G F Hoffmann; J Jaeken; R J Wanders; M Duran; G A Jansen; C Jakobs; W Lehnert; F Hanefeld; J Valk
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

10.  L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?

Authors:  M Duran; J P Kamerling; H D Bakker; A H van Gennip; S K Wadman
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

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  3 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

2.  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

3.  Clinicoradiological Spectrum of L-2-Hydroxy Glutaric Aciduria: Typical and Atypical Findings in an Indian Cohort.

Authors:  Karthik Muthusamy; Sniya Valsa Sudhakar; Christhunesa S Christudass; Mahalakshmi Chandran; Maya Thomas; Sridhar Gibikote
Journal:  J Clin Imaging Sci       Date:  2019-02-27
  3 in total

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