Literature DB >> 7609438

L-2-hydroxyglutaric aciduria: two further cases.

P Divry1, C Jakobs, C Vianey-Saban, K M Gibson, H Michelakakis, A Papadimitriou, R Divari, B Chabrol, M A Cournelle, M O Livet.   

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Year:  1993        PMID： 7609438     DOI： 10.1007/BF00711666

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


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  5 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.  Routine gas chromatographic/mass spectrometric analysis of urinary organic acids. Results over a three-year period.

Authors:  P Divry; C Vianey-Liaud; J Cotte
Journal:  Biomed Environ Mass Spectrom       Date:  1987-11

3.  D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder?

Authors:  K M Gibson; W Craigen; G E Herman; C Jakobs
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

4.  D-2-hydroxyglutaric aciduria: case report and biochemical studies.

Authors:  R A Chalmers; A M Lawson; R W Watts; A S Tavill; J P Kamerling; E Hey; D Ogilvie
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

5.  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
  5 in total
  5 in total

1.  Macrocephaly as the presenting feature of L-2-hydroxyglutaric aciduria in a 5-month-old boy.

Authors:  L Diogo; I Fineza; J Canha; L Borges; M L Cardoso; L Vilarinho
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

2.  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

3.  Effects of L-2-hydroxyglutaric acid on various parameters of the glutamatergic system in cerebral cortex of rats.

Authors:  Débora Junqueira; Ana M Brusque; Lisiane O Porciúncula; Liane N Rotta; Céar A J Ribeiro; Marcos E S Frizzo; Carlos S Dutra Filho; Clóvis M D Wannmacher; Angela T S Wyse; Diogo O Souza; Moacir Wajner
Journal:  Metab Brain Dis       Date:  2003-09       Impact factor: 3.584

Review 4.  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

5.  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
  5 in total

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