Publication
Deficiencia de glicerolcinasa: una causa metabólica de retraso global del desarrollo
| dc.contributor.author | Ribeiro, A.I. | |
| dc.contributor.author | Pinto, S. | |
| dc.contributor.author | Ayres-Pereira, I. | |
| dc.contributor.author | Vieira, A. | |
| dc.contributor.author | Valongo, C. | |
| dc.contributor.author | Passas, A. | |
| dc.contributor.author | Lopes, A. | |
| dc.contributor.author | Santos, H. | |
| dc.date.accessioned | 2020-05-11T16:18:03Z | |
| dc.date.available | 2020-05-11T16:18:03Z | |
| dc.date.issued | 2019-02-16 | |
| dc.description | Correspondencia | pt_PT |
| dc.description.abstract | La deficiencia de glicerolcinasa (GKD) es un raro trastorno recesivo ligado al X, caracterizado por la pérdida de la función del enzima glicerolcinasa (GK), que cataliza la fosforilación dietética del glicerol a glicerol-3-fosfato, necesario en la síntesis de lípidos y en la gluconeogénesis [1,2]. La pérdida de actividad enzimática conduce a una acumulación de glicerol en suero (hiperglicerolemia) y orina (gliceroluria). (...) | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Rev Neurol. 2019 Feb 16;68(4):179-180. doi: Rev Neurol . 2019 Feb 16;68(4):179-180 | pt_PT |
| dc.identifier.doi | 10.33588/rn.6804.2018333 | pt_PT |
| dc.identifier.issn | 0210-0010 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/6651 | |
| dc.language.iso | spa | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Viguera Editores | pt_PT |
| dc.relation.publisherversion | https://www.neurologia.com/articulo/2018333/esp | pt_PT |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc/4.0/ | pt_PT |
| dc.subject | Developmental Disabilities | pt_PT |
| dc.subject | Glycerol Kinase | pt_PT |
| dc.subject | Humans | pt_PT |
| dc.subject | Infant | pt_PT |
| dc.subject | Male | pt_PT |
| dc.subject | Metabolic Diseases | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.title | Deficiencia de glicerolcinasa: una causa metabólica de retraso global del desarrollo | pt_PT |
| dc.title.alternative | Glycerol kinase deficiency: a metabolic cause of global developmental delay | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 180 | pt_PT |
| oaire.citation.issue | 4 | pt_PT |
| oaire.citation.startPage | 179 | pt_PT |
| oaire.citation.title | Revista de neurologia | pt_PT |
| oaire.citation.volume | 68 | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |
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