Literature DB >> 8803783

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

L Diogo1, I Fineza, J Canha, L Borges, M L Cardoso, L Vilarinho.   

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Year:  1996        PMID： 8803783     DOI： 10.1007/bf01799270

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 aciduria: two further cases.

Authors:  P Divry; C Jakobs; C Vianey-Saban; K M Gibson; H Michelakakis; A Papadimitriou; R Divari; B Chabrol; M A Cournelle; M O Livet
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

2.  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

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
  1 in total

Review 1.  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
  1 in total

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