Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants.

doi:10.1093/jbmr/zjaf124

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

Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 2 Mar 2026

Montero-Lopez Rodrigo, Farman Mariam R, Högler Florian, Rehder Catherine, Malli Theodora, Webersinke Gerald, Rockman-Greenberg Cheryl, Dahir Kathryn, Martos-Moreno Gabriel Ángel, Linglart Agnès, Ozono Keiichi, Seefried Lothar, Del Angel Guillermo, Nading Erica Burner, Huggins Erin, Rush Eric T, Tauer Josephine T, Kishnani Priya S, Högler Wolfgang

Abstract excerpt

Hypophosphatasia (HPP) is the rare metabolic disorder caused by variants in the ALPL gene, resulting in deficient activity of tissue-nonspecific alkaline phosphatase (ALP). This leads to accumulation of substrates contributing to impaired bone mineralization. Hypophosphatasia manifests with a broad clinical spectrum; however, an increasing number of individuals with ALPL variants have been identified presenting...

Read the complete abstract on PubMed

Topics

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

Share to Alkaline Phosphatase

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Asymptomatic Diseases

Share to Child, Preschool

Share to Ethanolamines

Share to Hypophosphatasia

Share to Infant

Share to Infant, Newborn

Share to Pyridoxal Phosphate

Source

Open in PubMed Open full text

Identifiers

PMID: 41042986
DOI: 10.1093/jbmr/zjaf124
PMCID: PMC13017406

Genes

ALPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants.PMID 41042986Read ↗

Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of 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 ↗

Challenges in Hypophosphatasia: Suspicion, Diagnosis, Genetics, Management, and Follow-UpSemantic proximity Read ↗

Clinical and molecular findings in children and young adults with persistent low alkaline phosphatase concentrations.Semantic proximity Read ↗

Mutational and biochemical findings in adults with persistent hypophosphatasemia.Semantic proximity Read ↗

Genetic characterization of a large cohort of individuals with a clinical suspicion of hypophosphatasia in the United StatesSemantic proximity Read ↗

Hypophosphatasia.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 ↗

Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?Semantic proximity Read ↗

Hypophosphatasia: A Unique Disorder of Bone Mineralization.Semantic proximity Read ↗

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