Title |
Alkaline Phosphatase and Hypophosphatasia
|
---|---|
Published in |
Calcified Tissue International, November 2015
|
DOI | 10.1007/s00223-015-0079-1 |
Pubmed ID | |
Authors |
José Luis Millán, Michael P. Whyte |
Abstract |
Hypophosphatasia (HPP) results from ALPL mutations leading to deficient activity of the tissue-non-specific alkaline phosphatase isozyme (TNAP) and thereby extracellular accumulation of inorganic pyrophosphate (PPi), a natural substrate of TNAP and potent inhibitor of mineralization. Thus, HPP features rickets or osteomalacia and hypomineralization of teeth. Enzyme replacement using mineral-targeted TNAP from birth prevented severe HPP in TNAP-knockout mice and was then shown to rescue and substantially treat infants and young children with life-threatening HPP. Clinical trials are revealing aspects of HPP pathophysiology not yet fully understood, such as craniosynostosis and muscle weakness when HPP is severe. New treatment approaches are under development to improve patient care. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Canada | 1 | 17% |
United Kingdom | 1 | 17% |
Netherlands | 1 | 17% |
Unknown | 3 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 3 | 50% |
Members of the public | 2 | 33% |
Science communicators (journalists, bloggers, editors) | 1 | 17% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 230 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 29 | 13% |
Student > Bachelor | 28 | 12% |
Student > Ph. D. Student | 25 | 11% |
Student > Master | 24 | 10% |
Other | 13 | 6% |
Other | 43 | 19% |
Unknown | 68 | 30% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 70 | 30% |
Biochemistry, Genetics and Molecular Biology | 33 | 14% |
Agricultural and Biological Sciences | 14 | 6% |
Pharmacology, Toxicology and Pharmaceutical Science | 7 | 3% |
Chemistry | 5 | 2% |
Other | 24 | 10% |
Unknown | 77 | 33% |