Literature DB >> 19444541

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

Ged O'Connor, M King, G Salomons, C Jakobs, O Hardiman.   

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Year:  2009        PMID： 19444541     DOI： 10.1007/s00415-009-0107-z

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


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  7 in total

1.  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

2.  L-2-Hydroxyglutaric aciduria: MRI in seven cases.

Authors:  L D'Incerti; L Farina; I Moroni; G Uziel; M Savoiardo
Journal:  Neuroradiology       Date:  1998-11       Impact factor: 2.804

3.  L-2-hydroxyglutaric aciduria: two Japanese adult cases in one family.

Authors:  J Fujitake; Y Ishikawa; H Fujii; K Nishimura; K Hayakawa; F Inoue; N Terada; M Okochi; Y Tatsuoka
Journal:  J Neurol       Date:  1999-05       Impact factor: 4.849

4.  L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings.

Authors:  Manuel Seijo-Martínez; Carmen Navarro; Maria Castro del Río; Oscar Vila; Miguel Puig; Antonia Ribes; Mercedes Butron
Journal:  Arch Neurol       Date:  2005-04

5.  L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.

Authors:  Meral Topçu; Florence Jobard; Sophie Halliez; Turgay Coskun; Cengiz Yalçinkayal; Filiz Ozbas Gerceker; Ronald J A Wanders; Jean-François Prud'homme; Mark Lathrop; Meral Ozguc; Judith Fischer
Journal:  Hum Mol Genet       Date:  2004-09-22       Impact factor: 6.150

6.  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

7.  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
  7 in total
  8 in total

1.  Identification of the 2-hydroxyglutarate and isovaleryl-CoA dehydrogenases as alternative electron donors linking lysine catabolism to the electron transport chain of Arabidopsis mitochondria.

Authors:  Wagner L Araújo; Kimitsune Ishizaki; Adriano Nunes-Nesi; Tony R Larson; Takayuki Tohge; Ina Krahnert; Sandra Witt; Toshihiro Obata; Nicolas Schauer; Ian A Graham; Christopher J Leaver; Alisdair R Fernie
Journal:  Plant Cell       Date:  2010-05-25       Impact factor: 11.277

2.  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 3.  A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review.

Authors:  Yuanfeng Zhang; Chunmei Wang; Kunfang Yang; Simei Wang; Guoli Tian; Yucai Chen
Journal:  Neurol Sci       Date:  2018-07-06       Impact factor: 3.307

4.  Model-based confirmation of alternative substrates of mitochondrial electron transport chain.

Authors:  Sabrina Kleessen; Wagner L Araújo; Alisdair R Fernie; Zoran Nikoloski
Journal:  J Biol Chem       Date:  2012-02-09       Impact factor: 5.157

5.  In Silico Analysis of the L-2-Hydroxyglutarate Dehydrogenase Gene Mutations and Their Biological Impact on Disease Etiology.

Authors:  Muhammad Muzammal; Alessandro Di Cerbo; Eman M Almusalami; Arshad Farid; Muzammil Ahmad Khan; Shakira Ghazanfar; Mohammed Al Mohaini; Abdulkhaliq J Alsalman; Yousef N Alhashem; Maitham A Al Hawaj; Abdulmonem A Alsaleh
Journal:  Genes (Basel)       Date:  2022-04-15       Impact factor: 4.141

6.  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

7.  A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family.

Authors:  Muhammad Muzammal; Muhammad Zeeshan Ali; Beatrice Brugger; Jasmin Blatterer; Safeer Ahmad; Sundas Taj; Syed Khizar Shah; Saadullah Khan; Christian Enzinger; Erwin Petek; Klaus Wagner; Muzammil Ahmad Khan; Christian Windpassinger
Journal:  Metab Brain Dis       Date:  2021-11-01       Impact factor: 3.584

8.  Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.

Authors:  Muhammad Ikram Ullah; Abdul Nasir; Arsalan Ahmad; Gaurav Vijay Harlalka; Wasim Ahmad; Muhammad Jawad Hassan; Emma L Baple; Andrew H Crosby; Barry A Chioza
Journal:  BMC Med Genet       Date:  2018-02-20       Impact factor: 2.103
  8 in total

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