Listar Ciencias de la Salud por autor "Okuyama, Torayuki"
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Enzyme replacement therapy with pabinafusp alfa for neuronopathic mucopolysaccharidosis II : an integrated analysis of preclinical and clinical data
Giugliani, Roberto; Martins, Ana Maria (Medicina); Okuyama, Torayuki; Eto, Yoshikatsu; Sakai, Norio; Nakamura, Kimitoshi; Morimoto, Hideto; Minami, Kohtato; Yamamoto, Tatsuyoshi; Yamaoka, Mariko; Ikeda, Toshiaki; So, Sairei; Tanizawa, Kazunori; Sonoda, Hiroyuki; Schmidt, Mathias; Sato, Yuji (2021) [Artículo de periódico]Enzyme replacement therapy (ERT) improves somatic manifestations in mucopolysaccharidoses (MPS). However, because intravenously administered enzymes cannot cross the blood–brain barrier (BBB), ERT is ineffective against ... -
Genotype-phenotype relationships in mucopolysaccharidosistype I (MPS I) : insights from the International MPS I Registry
Clarke, Lorne A.; Giugliani, Roberto; Guffon, Nathalie; Jones, Simon A.; Keenan, Hillary; Munõz Rojas, Maria Verônica; Okuyama, Torayuki; Viskochil, David H.; Whitley, Chester B.; Wijburg, Frits; Muenzer, Joseph (2019) [Artículo de periódico]Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder resultingfrom pathogenic variants in theα-L-iduronidase (IDUA) gene. Clinical phenotypesrange from severe (Hurler syndrome) to attenuated ...