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Phenotype and genotype of hypophosphatasia cases in Saudi Arabia: multi-center case cohort

IntroductionHypophosphatasia (HPP) is a rare inherited metabolic disease caused by mutations in the ALPL gene. The disease is heterogeneous, complicating its diagnosis and delaying optimal management, leading to severe or lethal outcomes such as failure to thrive, fragility fractures, bone deformiti...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Afaf Alsagheir, Ali Mcrabi, Meshari Alquayt, Raghad Alhuthil, Afnan Alawi, Eissa Faqeih, Abrar Turki Alabdullatif, Doua Al Homyani, Amal AlJohany, Mariam AlOtaibi, Magdy Rabea, Hassan AlSayed, Mohamed H. Al-Hamed
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2026-01-01
Schriftenreihe:Frontiers in Genetics
Schlagworte:
ALPL gene
asfotase alfa
enzyme replacement therapy
hypophosphatasia
rare hereditary disorder
Online-Zugang:https://www.frontiersin.org/articles/10.3389/fgene.2025.1715818/full
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