Safety and efficacy of long term asfotase alfa treatment in childhood hypophosphatasia

Safety and efficacy of long term asfotase alfa treatment in childhood hypophosphatasia

Abstract Background Hypophosphatasia (HPP) is a rare inherited disorder characterized by a deficiency of tissue-non-specific alkaline phosphatase (TNSALP) due to loss-of-function variants of the ALPL gene. HPP is characterized by an extremely variable age of onset and clinical presentation, largely...

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Main Authors: Debora Mariarita d’Angelo, Federico Lauriola, Luisa Silvestrini, Luigia Cinque, Marco Castori, Giulia Di Donato, Armando Di Ludovico, Saverio La Bella, Francesco Chiarelli, Cosimo Giannini, Luciana Breda
Format: Article
Language:English
Published: BMC 2025-03-01
Series:Italian Journal of Pediatrics
Subjects:
Hypophosphatasia
X-linked hypophosphatasia
Asfotase alpha
Genu valgus
Limping
Alkaline phosphatase
Online Access:https://doi.org/10.1186/s13052-025-01883-2
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https://doi.org/10.1186/s13052-025-01883-2

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