Literature DB >> 7609437

L-2-hydroxyglutaric aciduria: three Australian cases.

B Wilcken1, J Pitt, D Heath, P Walsh, G Wilson, N Buchanan.   

Abstract

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Year:  1993        PMID： 7609437     DOI： 10.1007/BF00711665

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


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  3 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.  Macrocephaly: an important indication for organic acid analysis.

Authors:  G F Hoffmann; F K Trefz; P G Barth; H J Böhles; W Lehnert; E Christensen; J Valk; D Rating; H J Bremer
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

3.  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
  3 in total
  7 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.  Leukoencephalopathy with swelling in children and adolescents: MRI patterns and differential diagnosis.

Authors:  M S van der Knaap; J Valk; P G Barth; L M Smit; B G van Engelen; P Tortori Donati
Journal:  Neuroradiology       Date:  1995-11       Impact factor: 2.804

3.  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

4.  L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model.

Authors:  Jacques Penderis; Jacqui Calvin; Carley Abramson; Cornelis Jakobs; Louise Pettitt; Matthew M Binns; Nanda M Verhoeven; Eamonn O'Driscoll; Simon R Platt; Cathryn S Mellersh
Journal:  J Med Genet       Date:  2007-05       Impact factor: 6.318

Review 5.  Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review.

Authors:  Mahdi Aghili; Fatemeh Zahedi; Elham Rafiee
Journal:  J Neurooncol       Date:  2008-10-18       Impact factor: 4.130

Review 6.  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

7.  Papillary thyroid carcinoma shows elevated levels of 2-hydroxyglutarate.

Authors:  Dinesh Rakheja; Richard L Boriack; Midori Mitui; Shama Khokhar; Shelby A Holt; Payal Kapur
Journal:  Tumour Biol       Date:  2010-11-16
  7 in total

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