ARCHIVOS ARGENTINOS DE PEDIATRIA, vol.120, 2022 (Journal Indexed in SCI)
Article / Article
Title of Journal :
ARCHIVOS ARGENTINOS DE PEDIATRIA
hypophosphatasia, ALPL gene, asfotase alfa, enzyme replacement therapy
Hypophosphatasia (HPP) is a rare inherited disorder caused by mutations in the ALPL gene. Mineralization defect in bones and teeth, abnormal respiratory function, seizures, hypotonia, bone pain, and nephrocalcinosis can be observed. Clinical forms are usually recognized based on age at diagnosis and severity of features.