Impact of pediatric hypophosphatasia on behavioral health and quality of life

Impact of pediatric hypophosphatasia on behavioral health and quality of life

Abstract Background Hypophosphatasia (HPP) is a rare genetic disorder caused by loss-of-function mutations in the ALPL gene encoding tissue nonspecific alkaline phosphatase. It is characterized by defective bone mineralization associated with low alkaline phosphatase activity. Clinical features of p...

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Bibliographic Details
Main Authors: Elizabeth I. Pierpont, Jill H. Simmons, Katherine J. Spurlock, Ryan Shanley, Kyriakie M. Sarafoglou
Format: Article
Language:English
Published: BMC 2021-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Hypophosphatasia
Pediatric
Rare bone disease
Alkaline phosphatase
Behavior
Sleep disturbance
Online Access:https://doi.org/10.1186/s13023-021-01722-7

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