l-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1-Reference-Cited by-同舟云学术

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

Published:2004-09-22 Issue:22 Volume:13 Page:2803-2811
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Topçu Meral,Jobard Florence,Halliez Sophie,Coskun Turgay,Yalçinkayal Cengiz,Gerceker Filiz Ozbas,Wanders Ronald J.A.,Prud'homme Jean-François,Lathrop Mark,Özguc Meral,Fischer Judith

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/13/22/2803/1676808/ddh300.pdf

Reference37 articles.

1. Ozand, P.T. and Gascon, G.G. (1991) Organic acidurias: a review. Part 1. J. Child Neurol., 3, 196–219.

2. Ozand, P.T. and Gascon, G.G. (1991) Organic acidurias: a review. Part 2. J. Child Neurol., 4, 288–303.

3. Duran, M., Kamerling, J.P., Bakker, H.D.,van Gennip, A.H. and Wadman, S.K. (1980) l-2-hydroxyglutaric aciduria: an inborn error of metabolism? J. Inherit. Metab. Dis., 3, 109–112.

4. Barth, P.G., Hoffmann, G.F., Jaeken, J.J., Lehnert, W., Hanefeld, F., van Gennip, A.H., Duran, M., Valk, J., Schutgens, R.B., Trefz, F.K. et al. (1992) l-2 Hydroxyglutaric acidaemia: a novel inherited neurometabolic disorder. Ann. Neurol., 32, 66–71.

5. Barth, P.G., Hoffmann, G.F., Jaeken, J.J., Wanders, R.J., Duran, M., Jansen, G.A., Jakobs, C., Lehnert, W., Hanefeld, F., Valk, J. et al. (1993) l-2-Hydroxyglutaric acidemia: clinical and biochemical findings in 12 patients and preliminary report on l-2-hydroxyacid dehydrogenase. J. Inherit. Metab. Dis., 16, 753–761.

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