Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency.

Sarah VerheyenJasmin BlattererMichael R SpeicherGandham SriLakshmi BhavaniGeert-Jan BoonsMai-Britt IlseDominik AndraeJens SproßFrédéric Maxime VazSusanne G KircherLaura Posch-PertlDaniela BaumgartnerTorben LübkeHitesh ShahAli Al KaissiKatta Mohan Girisha Barbara Plecko

Published in: Journal of medical genetics (2021)

Our work provides a detailed clinical and molecular characterisation of a novel subtype of mucopolysaccharidosis, which we suggest to designate subtype X.

Keyphrases

replacement therapy
smoking cessation