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Article

Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene.

Scientific reports - 2 Jul 2019

García-Fontana Cristina, Villa-Suárez Juan M, Andújar-Vera Francisco, González-Salvatierra Sheila, Martínez-Navajas Gonzalo, Real Pedro J, Gómez Vida José M, de Haro Tomás, García-Fontana Beatriz, Muñoz-Torres Manuel

Abstract excerpt

Hypophosphatasia (HPP) is a genetic disease caused by one or several mutations in ALPL gene encoding the tissue-nonspecific alkaline phosphatase affecting the mineralization process. Due to its low prevalence and lack of recognition, this metabolic disorder is generally confused with other more frequent bone disorders. An assessment of serum total alkaline phosphatase (ALP) levels was performed in 78,590...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 31267001
DOI: 10.1038/s41598-019-46004-2
PMCID: PMC6606844

Genes

ALPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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