The Clinical Picture of Patients Suffering from Hypophosphatasia—A Rare Metabolic Disease of Many Faces

The Clinical Picture of Patients Suffering from Hypophosphatasia—A Rare Metabolic Disease of Many Faces

Hypophosphatasia (HPP) is a rare, and usually diagnosed with delay, genetic disease caused by a mutation in the alkaline phosphatase liver/bone/kidney type (ALPL) gene. Low activity of the alkaline phosphatase (ALP) impairs the hydroxyapatite formation, reducing skeletal mineralization. The aim of t...

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Bibliographic Details
Main Authors: Izabela Michałus, Aneta Gawlik, Katarzyna Wieczorek-Szukała, Andrzej Lewiński
Format: Article
Language:English
Published: MDPI AG 2022-03-01
Series:Diagnostics
Subjects:
hypophosphatasia
rare disease
bone metabolic disease
Online Access:https://www.mdpi.com/2075-4418/12/4/865

Internet

https://www.mdpi.com/2075-4418/12/4/865

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