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Functional disruption of pyrimidine nucleoside transporter CNT1 results in a novel inborn error of metabolism with high excretion of uridine and cytidine.
Wevers, R A; Christensen, M; Engelke, U F H; Geuer, S; Coene, K L M; Kwast, J T; Lund, A M; Vissers, L E L M.
  • Wevers RA; Department Laboratory Medicine, Translational Metabolic Laboratory, Radboudumc, Nijmegen, The Netherlands.
  • Christensen M; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
  • Engelke UFH; Department Laboratory Medicine, Translational Metabolic Laboratory, Radboudumc, Nijmegen, The Netherlands.
  • Geuer S; Department Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboudumc, Nijmegen, The Netherlands.
  • Coene KLM; Institut für Medizinische Diagnostik GmbH, Ingelheim, Germany.
  • Kwast JT; Department Laboratory Medicine, Translational Metabolic Laboratory, Radboudumc, Nijmegen, The Netherlands.
  • Lund AM; Department Laboratory Medicine, Translational Metabolic Laboratory, Radboudumc, Nijmegen, The Netherlands.
  • Vissers LELM; Department of Paediatrics and Clinical Genetics, Centre for Inherited Metabolic Diseases, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
J Inherit Metab Dis ; 42(3): 494-500, 2019 05.
Article en En | MEDLINE | ID: mdl-30847922
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas de Transporte de Membrana / Uridina / Citidina / Epilepsia Límite: Humans / Infant / Male Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas de Transporte de Membrana / Uridina / Citidina / Epilepsia Límite: Humans / Infant / Male Idioma: En Año: 2019 Tipo del documento: Article