Genetic analysis of adults heterozygous for ALPL mutations.

doi:10.1007/s00774-017-0888-6

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Genetic analysis of adults heterozygous for ALPL mutations.

Journal of bone and mineral metabolism - 1 Nov 2018

Taillandier Agnès, Domingues Christelle, Dufour Annika, Debiais Françoise, Guggenbuhl Pascal, Roux Christian, Cormier Catherine, Cortet Bernard, Porquet-Bordes Valérie, Coury Fabienne, Geneviève David, Chiesa Jean, Colin Thierry, Fletcher Elaine, Guichet Agnès, Javier Rose-Marie, Laroche Michel, Laurent Michael, Lausch Ekkehart, LeHeup Bruno, Lukas Cédric, Schwabe Georg, van der Burgt Ineke, Muti Christine, Simon-Bouy Brigitte, Mornet Etienne

Abstract excerpt

Hypophosphatasia (HPP) is a rare inherited metabolic bone disease due to a deficiency of the tissue nonspecific alkaline phosphatase isoenzyme (TNSALP) encoded by the ALPL gene. Patients have consistently low serum alkaline phosphatase (AP), so that this parameter is a good hallmark of the disease. Adult HPP is heterogeneous, and some patients present only mild nonpathognomonic symptoms which are also common in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Aged

Share to Alkaline Phosphatase

Share to Genes, Dominant

Share to Heterozygote

Share to High-Throughput Nucleotide Sequencing

Share to Polymorphism, Single Nucleotide

Share to Young Adult

Source

Open in PubMed

Identifiers

PMID: 29236161
DOI: 10.1007/s00774-017-0888-6

Genes

ALPL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic analysis of adults heterozygous for ALPL mutations.PMID 29236161Read ↗

Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.Semantic proximity Read ↗

A novel de novo heterozygous ALPL nonsense mutation associated with adult hypophosphatasia.Semantic proximity Read ↗

Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia.Semantic proximity Read ↗

Integrated Genetic and Biochemical Approach to Patients with Bone Disorders Exhibiting Low Alkaline Phosphatase.Semantic proximity Read ↗

Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation.Semantic proximity Read ↗

Loss-of-Function Mutations in the ALPL Gene Presenting with Adult Onset Osteoporosis and Low Serum Concentrations of Total Alkaline Phosphatase.Semantic proximity Read ↗

Polymorphic variants of alkaline phosphatase gene correlate with clinical signs of adult hypophosphatasia?Semantic proximity Read ↗

Characterization of Genetic Variants of Uncertain Significance for the ALPL Gene in Patients With Adult Hypophosphatasia.Semantic proximity Read ↗

Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants.Semantic proximity Read ↗

Genetics of hypophosphatasia.Semantic proximity Read ↗

ALPL Mutations With Dominant-Negative Effect in Infantile Hypophosphatasia Monozygotic Twins.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.