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

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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Bibliographic Details
Main Authors: Gregory Costain, Aideen M. Moore, Lauren Munroe, Alison Williams, Randi Zlotnik Shaul, Cheryl Rockman-Greenberg, Martin Offringa, Peter Kannu
Format: Article
Language:English
Published: Elsevier 2018-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Hypophosphatasia
Alkaline phosphatase
ALPL
Skeletal dysplasia
Enzyme replacement therapy
Asfotase alfa
Orphan drug
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426917301271

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http://www.sciencedirect.com/science/article/pii/S2214426917301271

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