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

Pediatric hypophosphatasia: avoid diagnosis missteps!

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 23 Jul 2024

Whyte Michael P, McAlister William H, Mack Karen E, Mumm Steven, Madson Katherine L

Abstract excerpt

Hypophosphatasia (HPP) is the dento-osseous disorder caused by deactivating mutation(s) of ALPL, the gene that encodes the "tissue-nonspecific" isoenzyme of alkaline phosphatase (TNSALP). In HPP, 3 natural substrates of cell-surface TNSALP accumulate extracellularly; phosphoethanolamine (PEA), inorganic pyrophosphate (PPi), and pyridoxal 5'-phosphate (PLP). Hypophosphatasemia together with elevated plasma levels...

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 Child

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

Share to ALPL gene

Share to Hypophosphatasia

Share to Mutation

Source

Identifiers

PMID: 38905292
DOI: 10.1093/jbmr/zjae098

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

Pediatric hypophosphatasia: avoid diagnosis missteps!PMID 38905292Read ↗

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

Hypophosphatasia: Biochemical hallmarks validate the expanded pediatric clinical nosology.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 ↗

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

Hypophosphatasia.Semantic proximity Read ↗

The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance.Semantic proximity Read ↗

Hypophosphatasia.Semantic proximity Read ↗

Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.Semantic proximity Read ↗

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