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Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience.

Rita FischettoValentina PalladinoMaria M MancardiThea GiacominiStefano PalladinoAlberto GaetaMaja Di RoccoLucia ZampiniGiuseppe LassandroVito FaviaMaria E TripaldiPietro StrisciuglioAlfonso RomanoMariasavina SeverinoAmelia MorronePaola Giordano
Published in: Molecular genetics & genomic medicine (2020)
This treatment was safe and relatively well tolerated by all patients, with stabilization and/or slowing down of the neurological progression in three subjects.
Keyphrases
  • clinical trial
  • young adults
  • replacement therapy
  • amino acid
  • brain injury
  • structural basis