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Leigh syndrome due to pyruvate dehydrogenase E1α deficiency (point mutation R263G) in a Spanish boy

1996; Springer Science+Business Media; Volume: 19; Issue: 6 Linguagem: Inglês

10.1007/bf01799177

1573-2665

P. Briones, M. J. N. Lopez, Linda De Meırleır, Antònia Ribes, M. Rodés, Cecilia Martínez‐Costa, Manel González Peris, Willy Lissens,

Pancreatic function and diabetes

Journal of Inherited Metabolic DiseaseVolume 19, Issue 6 p. 795-796 Case Report Leigh syndrome due to pyruvate dehydrogenase E1α deficiency (point mutation R263G) in a Spanish boy P. Briones, P. Briones Institut de Bioquímica Clínica, Apartado de Correos 137, Cerdanyola (Barcelona), 08290 SpainSearch for more papers by this authorM. J. López, M. J. López Hospital Clínico Universitario, Valencia, SpainSearch for more papers by this authorL. De Meirleir, L. De Meirleir Academisch Ziekenhuis, Vrije Universiteit, Brussels, BelgiumSearch for more papers by this authorA. Ribes, A. Ribes Institut de Bioquímica Clínica, Apartado de Correos 137, Cerdanyola (Barcelona), 08290 SpainSearch for more papers by this authorM. Rodés, M. Rodés Institut de Bioquímica Clínica, Apartado de Correos 137, Cerdanyola (Barcelona), 08290 SpainSearch for more papers by this authorC. Martinez-Costa, C. Martinez-Costa Hospital Clínico Universitario, Valencia, SpainSearch for more papers by this authorM. Peris, M. Peris Hospital Clínico Universitario, Valencia, SpainSearch for more papers by this authorW. Lissens, W. Lissens Academisch Ziekenhuis, Vrije Universiteit, Brussels, BelgiumSearch for more papers by this author P. Briones, P. Briones Institut de Bioquímica Clínica, Apartado de Correos 137, Cerdanyola (Barcelona), 08290 SpainSearch for more papers by this authorM. J. López, M. J. López Hospital Clínico Universitario, Valencia, SpainSearch for more papers by this authorL. De Meirleir, L. De Meirleir Academisch Ziekenhuis, Vrije Universiteit, Brussels, BelgiumSearch for more papers by this authorA. Ribes, A. Ribes Institut de Bioquímica Clínica, Apartado de Correos 137, Cerdanyola (Barcelona), 08290 SpainSearch for more papers by this authorM. Rodés, M. Rodés Institut de Bioquímica Clínica, Apartado de Correos 137, Cerdanyola (Barcelona), 08290 SpainSearch for more papers by this authorC. Martinez-Costa, C. Martinez-Costa Hospital Clínico Universitario, Valencia, SpainSearch for more papers by this authorM. Peris, M. Peris Hospital Clínico Universitario, Valencia, SpainSearch for more papers by this authorW. Lissens, W. Lissens Academisch Ziekenhuis, Vrije Universiteit, Brussels, BelgiumSearch for more papers by this author First published: 01 November 1996 https://doi.org/10.1007/BF01799177Citations: 11AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References 1Lissens W, De Meirleir L, Seneca S et al (1996) Mutation analysis of the pyruvate dehydrogenase E1α gene in 8 patients with a pyruvate complex deficiency. Hum Mutat, 7: 46–51. 2Robinson BH, Scriver CR, Beaudet AL, Sly WL, Valle D (1995) Lactic acidemia. In: The Metabolic and Molecular Bases of Inherited Disease, 7th edn.. New York: McGraw-Hill, 1479–1499. Citing Literature Volume19, Issue6November 1996Pages 795-796 ReferencesRelatedInformation