Ontology highlight
ABSTRACT:
SUBMITTER: Costain G
PROVIDER: S-EPMC5681336 | biostudies-literature | 2018 Mar
REPOSITORIES: biostudies-literature
Costain Gregory G Moore Aideen M AM Munroe Lauren L Williams Alison A Zlotnik Shaul Randi R Rockman-Greenberg Cheryl C Offringa Martin M Kannu Peter P
Molecular genetics and metabolism reports 20171107
Enzyme replacement therapy (ERT) is a newly approved disease-modifying treatment for hypophosphatasia (HPP), a rare metabolic bone disorder. With an orphan drug and ultra-rare disease, sharing information about responders and non-responders is particularly important, as any one centre's familiarity with its use will be limited. Nearly all published data in infants and very young children with life-threatening HPP are from three small clinical trials that have reported generally positive outcomes ...[more]