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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Detalles Bibliográficos
Autores principales: Michałus, Izabela, Gawlik, Aneta, Wieczorek-Szukała, Katarzyna, Lewiński, Andrzej
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9031194/
https://www.ncbi.nlm.nih.gov/pubmed/35453912
http://dx.doi.org/10.3390/diagnostics12040865

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9031194/
https://www.ncbi.nlm.nih.gov/pubmed/35453912
http://dx.doi.org/10.3390/diagnostics12040865

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