Literature DB >> 9686369

L-2-hydroxyglutaric aciduria and lactic acidosis.

P G Barth1, R J Wanders, H R Scholte, N Abeling, C Jakobs, R B Schutgens, P Vreken.   

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Year:  1998        PMID： 9686369     DOI： 10.1023/a:1005316121584

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


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  9 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.  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

3.  Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia.

Authors:  P D Maaswinkel-Mooij; C Van den Bogert; H R Scholte; W Onkenhout; P Brederoo; B J Poorthuis
Journal:  J Pediatr       Date:  1996-05       Impact factor: 4.406

4.  D-2-hydroxyglutaric acidaemia: identification of a new enzyme, D-2-hydroxyglutarate dehydrogenase, localized in mitochondria.

Authors:  R J Wanders; P Mooyer
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

5.  Clinical and pathological study of three Tunisian siblings with L-2-hydroxyglutaric aciduria.

Authors:  A Larnaout; F Hentati; S Belal; C Ben Hamida; N Kaabachi; M Ben Hamida
Journal:  Acta Neuropathol       Date:  1994       Impact factor: 17.088

6.  L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death.

Authors:  E Chen; W L Nyhan; C Jakobs; C M Greco; A J Barkovich; V A Cox; S Packman
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

7.  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

8.  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

9.  L-2-hydroxyglutarate dehydrogenase: identification of a novel enzyme activity in rat and human liver. Implications for L-2-hydroxyglutaric acidemia.

Authors:  G A Jansen; R J Wanders
Journal:  Biochim Biophys Acta       Date:  1993-11-25
  9 in total
  6 in total

Review 1.  Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies.

Authors:  Moacir Wajner; Stephen I Goodman
Journal:  J Bioenerg Biomembr       Date:  2011-02       Impact factor: 2.945

2.  Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.

Authors:  Nadege Kammoun Jellouli; Ikhlass Hadj Salem; Emna Ellouz; Zeineb Kamoun; Fatma kamoun; Abdelaziz tlili; Naziha Kaabachi; Chanez Triki; Faiza Fakhfakh
Journal:  J Hum Genet       Date:  2014-02-27       Impact factor: 3.172

3.  Acidic pH Is a Metabolic Switch for 2-Hydroxyglutarate Generation and Signaling.

Authors:  Sergiy M Nadtochiy; Xenia Schafer; Dragony Fu; Keith Nehrke; Joshua Munger; Paul S Brookes
Journal:  J Biol Chem       Date:  2016-08-10       Impact factor: 5.157

4.  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

5.  Metabolic causes of epileptic encephalopathy.

Authors:  Joe Yuezhou Yu; Phillip L Pearl
Journal:  Epilepsy Res Treat       Date:  2013-05-22

6.  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
  6 in total

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