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

Clinical and molecular findings in children and young adults with persistent low alkaline phosphatase concentrations.

Annals of clinical biochemistry - 1 Jul 2021

Araci Mehmet Bilal, Akgun Bilcag, Atik Tahir, Isik Esra, Ak Gunes, Barutcuoglu Burcu, Ozkinay Ferda

Abstract excerpt

BACKGROUND: Hypophosphatasia is a rare inherited metabolic disease resulted by ALPL gene mutations. It is characterized by defective bone and teeth mineralization. The phenotypic spectrum is highly variable ranging from lethal perinatal form to mild forms which are only diagnosed in adulthood or remain undiagnosed despite persistently low concentrations of ALP. The aim of this study is to evaluate the clinical...

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 Alternative Splicing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Calcium

Share to Heterozygote

Share to Hypophosphatasia

Share to Phosphates

Share to Turkey

Share to Young Adult

Source

Identifiers

PMID: 33601892
DOI: 10.1177/00045632211000102

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and molecular findings in children and young adults with persistent low alkaline phosphatase concentrations.PMID 33601892Read ↗

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

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

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

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

Hypophosphatasia.Semantic proximity Read ↗

Hypophosphatasia.Semantic proximity Read ↗

Musculoskeletal pain and muscular weakness as the main symptoms of adult hypophosphatasia in a Spanish cohort: clinical characterization and identification of a new ALPL gene variant.Semantic proximity Read ↗

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

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

Pediatric hypophosphatasia: a retrospective single-centre chart review of 50 childrenSemantic proximity Read ↗

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