Mutation analysis of the pyruvate dehydrogenase E1α gene in eight patients with a pyruvate dehydrogenase complex deficiency

Autor: Ingeborg Liebaers, D. Chaigne, L. De Meirleir, Wim Ruitenbeek, Sara Seneca, Willy Lissens, O. P. van Diggelen, B. T. Poll-The, Vincent Ramaekers, C Benelli, Cécile Marsac, Paz Briones

Publikováno v: Human Mutation, 7, 46-51
Human mutation, 7(1), 46-51. Wiley-Liss Inc.
Vrije Universiteit Brussel
Human Mutation, 7, 1, pp. 46-51
Human Mutation, 7, pp. 46-51

Most of the mutations causing deficiency of the pyruvate dehydrogenase (PDH) complex are in the X-linked E ^ gene. We have developed a rapid screening method for the detection of mutations in this gene using reverse transcription of total RNA, polyme

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24e1ad177c6899404075abf4d9f7b43f
https://doi.org/10.1002/(sici)1098-1004(1996)7:1<46::aid-humu6>3.3.co

PDH deficiency : genotype-phenotype

Autor: De Meirleir, Linda, Lissens, Willy, Chun, K., Mckay, N., Robinson, Bh.

Pyruvate dehydrogenease (PDH) deficiency is one of the most important inborn errors of metabolism causing congenital lactic acidosis. A wide spectrum of clinical presentations can accompany a PDH deficiency. In order to study the relationship between

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3848::9514a6e6b08cfa86a05e153370fc9e1f
https://biblio.vub.ac.be/vubir/pdh-deficiency--genotypephenotype(867dc2dc-d5fb-4af5-b8cb-067a388850c5).html

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