Cargando…
Hypophosphatasia
Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization, and deficiency of serum and bone alkaline phosphatase activity. The prevalence of severe forms of the disease has been estimated at 1/100 000. The symptoms are highly variable in their clinical ex...
Autor principal: | Mornet, Etienne |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2007
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2164941/ https://www.ncbi.nlm.nih.gov/pubmed/17916236 http://dx.doi.org/10.1186/1750-1172-2-40 |
Ejemplares similares
-
Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy
por: Girschick, Hermann J, et al.
Publicado: (2007) -
Orodental phenotype and genotype findings in all subtypes of hypophosphatasia
por: Reibel, Amélie, et al.
Publicado: (2009) -
Hypophosphatasia Presenting with Pyridoxine-Responsive Seizures, Hypercalcemia, and Pseudotumor Cerebri: Case Report
por: Demirbilek, Hüseyin, et al.
Publicado: (2012) -
Hypophosphatasia
por: Tournis, Symeon, et al.
Publicado: (2021) -
Large‐scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia
por: del Angel, Guillermo, et al.
Publicado: (2020)