Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice

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 familia...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Costain, Gregory, Moore, Aideen M., Munroe, Lauren, Williams, Alison, Zlotnik Shaul, Randi, Rockman-Greenberg, Cheryl, Offringa, Martin, Kannu, Peter
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2017
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5681336/
https://ncbi.nlm.nih.gov/pubmed/29159075
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2017.10.006
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