Prevalence of antibodies to ganglioside and Hep 2 in Gaucher, Niemann – Pick type C and Sanfilippo diseases
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2019.100477
Abstract: Lysosomal Storage Diseases (LSDs) are rare genetic diseases, the majority of which are caused by specific lysosomal enzyme deficiencies and all are characterized by malfunctioning lysosomes. Lysosomes are key regulators of many different cellular processes… read more here.
Keywords: pick type; sanfilippo; niemann pick; igg ... See more keywords
A voice for orphans
Sign Up to like & getrecommendations! Published in 2017 at "Lab Animal"
DOI: 10.1038/laban.1335
Abstract: of Sanfilippo, are candidates for enzyme replacement therapy and are currently in clinical trials. But for Jonah’s Type C version, Wood recalls having to start from scratch. “When Jonah was diagnosed, there was nothing happening… read more here.
Keywords: jonah; disease; voice orphans; sanfilippo ... See more keywords