AIMC Topic: Hypophosphatasia

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AI-assisted phenotyping in a zebrafish hypophosphatasia model enables early and precise detection of skeletal alterations.

Scientific reports
Hypophosphatasia (HPP) is a rare genetic disorder mainly affecting bone and tooth mineralization in patients due to ALPL gene mutations. Understanding genotype-phenotype correlations in HPP remains challenging due to different severities and the dise...

Biochemical algorithm to identify individuals with ALPL variants among subjects with persistent hypophosphatasaemia.

Orphanet journal of rare diseases
BACKGROUND: Hypophosphatasia (HPP) is a rare and underdiagnosed condition characterized by deficient bone and teeth mineralization. The aim of this study was first, to evaluate the diagnostic utility of employing alkaline phosphatase (ALP) threshold ...