Discover Community Create You

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

Article

Hypophosphatasia.

Current osteoporosis reports - 1 Jun 2016

Linglart Agnès, Biosse-Duplan Martin

Abstract excerpt

Hypophosphatasia is a rare disorder due to a mutation in the ALPL gene encoding the alkaline phosphatase (ALP) leading to a diminished activity of the enzyme in bone, liver, and kidney. Hypophosphatasia is a heterogeneous disease, ranging from extreme life-threatening forms revealed at birth in young infants presenting with severely impaired bone mineralization, seizures, and hypercalcemia, to young adults with...

Read the complete abstract on PubMed

Topics

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

Share to Alkaline Phosphatase
Share to Calcium, Dietary
Share to Disease Management

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

Share to Enzyme Replacement Therapy

Share to Hypercalcemia

Share to Hypophosphatasia

Share to Seizures

Share to Vitamin D Deficiency

Source

Identifiers

PMID: 27084188
DOI: 10.1007/s11914-016-0309-0

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.

Related research

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

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hypophosphatasia.PMID 27084188Read ↗

Hypophosphatasia.Semantic proximity Read ↗

Hypophosphatasia.Semantic proximity Read ↗

Hypophosphatasia in children: From low alkaline phosphatase activity to diagnosis, genetic testing, and treatment options. A narrative review.Semantic proximity Read ↗

Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment.Semantic proximity Read ↗

Hypophosphatasia.Semantic proximity Read ↗

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

The diagnosis of hypophosphatasia in children as a multidisciplinary effort: an expert opinion.Semantic proximity Read ↗

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

Pediatric hypophosphatasia: avoid diagnosis missteps!Semantic proximity Read ↗

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

[Hypophosphatasia].Semantic proximity Read ↗

Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group.Semantic proximity Read ↗

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