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Listando por materia "Nucleòtids"

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    • A nucleotide-based drug protects against glutamate- and MPP+ -induced neurotoxicity 

      Gella Concustell, Alejandro; Martiáñez Canales, Tània; Lamarca Dams, Aloa; Gutierrez, Cristina; Durany, Nuria; Casals i Farré, Núria (Neuroscience & Medicine, 2011)
      Nucleo CMP Forte® is a nucleotide-based drug consisting of cytidinemonophosphate, uridinemonophosphate, uridin-ediphosphate and uridinetriphosphate. It has been prescribed for peripheral nervous system ...
    • Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency 

      Buesa, Carlos; Pié, Juan; Barceló, Ana; Casals i Farré, Núria; Mascaró, Cristina; Casale, César H.; Haro, Diego; Duran, Marinus; Smeitink, Jan A. M.; Hegardt, Fausto G. (Journal of Lipid Research, 1996-11)
      A novel point mutation in the 3-hydroxy-3methyl-glutaryl coenzyme A lyase gene was found in a Turkish patient with homozygous 3-hydroxy-3-methylglutaric acidemia. Amplification by RT-PCR of the mRNA ...
    • A two-base deletion in exon 6 of the 3-hydroxy-3- methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3- hydroxy-3-methylglutaric aciduria 

      Casals i Farré, Núria; Pié, Juan; Casale, César H.; Zapater, Núria; Ribes, Antònia; Castro-Gago, Manuel; Rodriguez-Segade, Santiago; Wanders, Ronald J. R.; Hegardt, Fausto G. (Journal of Lipid Research, 1997)
      A novel two-base deletion in the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene was found in a Spanish patient with homozygous 3-hydroxy-3-methylglutaric aciduria. Amplification by RT-PCR of the ...
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