ArticleActualizaciones en osteologia2012
Hypophosphatasia - pathophysiology and treatment.
Article in Actualizaciones en osteologia, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
24 citing papers in PubMed, 35 citations in OpenAlex.
- Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia.The Journal of clinical endocrinology and metabolism · 2016Trial
- Iatrogenic Pan-Craniosynostosis Due to Alkaline Phosphatase Enzyme Replacement Therapy Using Asfotase Alfa for Hypophosphatasia.Journal of plastic and reconstructive surgery · 2026Article
- In-utero cell transplantation for hypophosphatasia with gene-edited hESC-derived MSCs in a murine model.Molecular therapy. Advances · 2026Article
- A Narrative Review of Chondrocalcinosis: Clinical Presentation, Diagnosis, and Therapies.Cureus · 2024Review
- Hypophosphatasia: presentation and response to asfotase alfa.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2024Article
- A Novel Case of Concomitant PHEX and ALPL Mutation In a Family With Rickets.JCEM case reports · 2023Article
- Could Some Patients With Fibromyalgia Potentially Have Hypophosphatasia? A Retrospective Single-Center Study.ACR open rheumatology · 2023Article
- The impact of enzyme replacement therapy on the oral health manifestations of hypophosphatasia among children: a scoping review.European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry · 2023Article
- Dental manifestation and management of hypophosphatasia.The Japanese dental science review · 2022Review
- Article
- The Clinical Picture of Patients Suffering from Hypophosphatasia-A Rare Metabolic Disease of Many Faces.Diagnostics (Basel, Switzerland) · 2022Article
- Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?Journal of bone and mineral metabolism · 2021Article
- Hypophosphatasia: A Unique Disorder of Bone Mineralization.International journal of molecular sciences · 2021Review
- Suitability and limitations of mesenchymal stem cells to elucidate human bone illness.World journal of stem cells · 2019Review
- [Dental-craniofacial manifestation and treatment of rare diseases in China].Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology · 2019Article
- Dental-craniofacial manifestation and treatment of rare diseases.International journal of oral science · 2019Review
- Hypophosphatasia: From Diagnosis to Treatment.Current rheumatology reports · 2018Review
- Article
- Skeletal Dysplasias: Growing Therapy for Growing Bones.Frontiers in pharmacology · 2017Review
- Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? - Call for a long-term follow-up of premature loss of primary teeth.Bone reports · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Hypophosphatasia (HPP) is the inborn-error-of-metabolism caused by loss-of-function mutation(s) in the gene that encodes the tissue-nonspecific isozyme of alkaline phosphatase (TNAP). The disease has been classified according to patient age when the first signs and symptoms manifest; i.e., perinatal, infantile, childhood, adult HPP. Other types include odonto HPP and perinatal benign. Babies with the perinatal/infantile forms of HPP often die with severe rickets and respiratory insufficiency and sometimes hypercalcemia and vitamin B
Identifiers
25254037PMC4171060W2290672512What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.