Browsing by Author "0e280307-0399-47f4-bf9e-bd047ee4eadb"

Now showing items 1-3 of 3

    • A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction 
      Sakamoto, Masamune; Kouhei, Den; Haniffa, Muzhirah; Silva, Sebastián; Troncoso Schifferli, Mónica; Santander Vidal, Paola; Schonstedt, Valeria; Stecher, Ximena; Okamoto, Nobuhiko; Hamanaka, Kohei; Mizuguchi, Takeshi; Mitsuhashi, Satomi; Miyake, Noriko; Matsumoto, Naomichi (Nature, 2020)
      Inborn errors of metabolism can cause epileptic encephalopathies. Biallelic loss-of-function variants in the ITPA gene, encoding inosine triphosphate pyrophosphatase (ITPase), have been reported in epileptic encephalopathies ...
    • Lesch-Nyhan disease in two families from Chiloe island with mutations in the HPRT1 gene 
      Nguyen, Khue Vu; Silva, Sebastián; Troncoso Schifferli, Lucy Mónica; Naviaux, Robert K.; Nyhan, William L. (Taylor & Francis, 2017)
      Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report two independent ...
    • Preventing presbycusis in mice with enhanced medial olivocochlear feedback 
      Boero, Luis E.; Castagna, Valeria C.; Terreros, Gonzalo; Moglie, Marcelo J.; Silva, Sebastián; Maass Oñate, Juan; Fuchs, Paul A.; Délano, Paul H.; Elgoyhen, Ana Belén; Gómez Casati, María Eugenia (National Academy of Sciences, 2020)
      "Growing old" is the most common cause of hearing loss. Age-related hearing loss (ARHL) (presbycusis) first affects the ability to understand speech in background noise, even when auditory thresholds in quiet are normal. ...