Subir material

Suba sus trabajos a SEDICI, para mejorar notoriamente su visibilidad e impacto

 

Mostrar el registro sencillo del ítem

dc.date.accessioned 2022-03-17T13:51:07Z
dc.date.available 2022-03-17T13:51:07Z
dc.date.issued 1998-06-01
dc.identifier.uri http://sedici.unlp.edu.ar/handle/10915/132731
dc.description.abstract The pyruvate dehydrogenase (PDH) complex (PDHc) is responsible for the irreversible conversion of pyruvate to acetyl-CoA. PDHc is a multienzyme complex consisting of three catalytic subunits, pyruvate decarboxylase (E1), dihydrolipoamideacetyltransferase (E2), dihydrolipoamide dehydrogenase (E3), and two regulatorysubunits, E1 kinase and phospho-E1 phosphatase. An abnormal E1asubunit, whosegene is located on the X chromosome, is the most frequent cause of PDH deÐciency. The clinical presentation of a PDH-E1adeÐciency (McKusick 312170) is variable.We have analysed a family with a mutation (36 bp insertion in exon 10) in thePDH-E1agene in which the male member had a diferent and less severe clinicalpicture than his afected sister. en
dc.format.extent 224-226 es
dc.language en es
dc.subject pyruvate dehydrogenase complex es
dc.subject gene mutation es
dc.title Pyruvate dehydrogenase E1α deficiency in a family en
dc.type Articulo es
sedici.identifier.other doi:10.1023/a:1005347501111 es
sedici.identifier.other pmid:9686362 es
sedici.identifier.issn 0141-8955 es
sedici.identifier.issn 1573-2665 es
sedici.title.subtitle Different clinical presentation in two siblings en
sedici.creator.person De Meirleir, L. es
sedici.creator.person Spècola, Norma es
sedici.creator.person Seneca, Sara es
sedici.creator.person Lissens, Willy es
sedici.subject.materias Ciencias Médicas es
sedici.description.fulltext true es
mods.originInfo.place Facultad de Ciencias Médicas es
sedici.subtype Articulo es
sedici.rights.license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0)
sedici.rights.uri http://creativecommons.org/licenses/by-nc-sa/4.0/
sedici.description.peerReview peer-review es
sedici.relation.journalTitle Journal of inherited metabolic disease es
sedici.relation.journalVolumeAndIssue vol. 21, no. 3 es


Descargar archivos

Thumbnail
Documento
Descargar archivo (74.12Kb) - PDF

Este ítem aparece en la(s) siguiente(s) colección(ones)

Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) Excepto donde se diga explícitamente, este item se publica bajo la siguiente licencia Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0)