AIMC Topic: Hypophosphatasia
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Biochemical algorithm to identify individuals with ALPL variants among subjects with persistent hypophosphatasaemia.
Orphanet journal of rare diseases
Mar 3, 2022
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 ...
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