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dc.contributor.authorVilla Suárez, Juan Miguel
dc.contributor.authorGarcía Fontana, Cristina 
dc.contributor.authorAndujar Vera, Francisco
dc.contributor.authorGonzález Salvatierra, Sheila
dc.contributor.authorHaro Muñoz, Tomás de 
dc.contributor.authorContreras Bolívar, Victoria
dc.contributor.authorGarcía Fontana, Beatriz 
dc.contributor.authorMuñoz Torres, Manuel Eduardo 
dc.date.accessioned2021-06-01T06:47:15Z
dc.date.available2021-06-01T06:47:15Z
dc.date.issued2021-04-21
dc.identifier.citationVilla-Suárez, J.M.; García-Fontana, C.; Andújar-Vera, F.; González-Salvatierra, S.; de Haro-Muñoz, T.; Contreras-Bolívar, V.; García-Fontana, B.; Muñoz-Torres, M. Hypophosphatasia: A Unique Disorder of Bone Mineralization. Int. J. Mol. Sci. 2021, 22, 4303. [https://doi.org/10.3390/ijms22094303]es_ES
dc.identifier.urihttp://hdl.handle.net/10481/68947
dc.descriptionThis research was funded by the Institute of Health Carlos III grants (PI18-00803 and PI18-01235), co-funded by the European Regional Development Fund (FEDER). In addition, JM.V-S and C.G-F are funded by predoctoral and postdoctoral fellowships, respectively, from the Institute of Health Carlos III (CM19/00188; CD20/00022). The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results.es_ES
dc.description.abstractHypophosphatasia (HPP) is a rare genetic disease characterized by a decrease in the activity of tissue non-specific alkaline phosphatase (TNSALP). TNSALP is encoded by the ALPL gene, which is abundantly expressed in the skeleton, liver, kidney, and developing teeth. HPP exhibits high clinical variability largely due to the high allelic heterogeneity of the ALPL gene. HPP is characterized by multisystemic complications, although the most common clinical manifestations are those that occur in the skeleton, muscles, and teeth. These complications are mainly due to the accumulation of inorganic pyrophosphate (PPi) and pyridoxal-5 '-phosphate (PLP). It has been observed that the prevalence of mild forms of the disease is more than 40 times the prevalence of severe forms. Patients with HPP present at least one mutation in the ALPL gene. However, it is known that there are other causes that lead to decreased alkaline phosphatase (ALP) levels without mutations in the ALPL gene. Although the phenotype can be correlated with the genotype in HPP, the prediction of the phenotype from the genotype cannot be made with complete certainty. The availability of a specific enzyme replacement therapy for HPP undoubtedly represents an advance in therapeutic strategy, especially in severe forms of the disease in pediatric patients.es_ES
dc.description.sponsorshipInstituto de Salud Carlos III PI18-00803 PI18-01235 CM19/00188 CD20/00022es_ES
dc.description.sponsorshipEuropean Commissiones_ES
dc.language.isoenges_ES
dc.publisherMDPIes_ES
dc.rightsAtribución 3.0 España*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/es/*
dc.subjectHypophosphatasiaes_ES
dc.subjectTNSALPes_ES
dc.subjectPyridoxal-5'-phosphatees_ES
dc.subjectGenotype-phenotypees_ES
dc.subjectAsfotase alfaes_ES
dc.titleHypophosphatasia: A Unique Disorder of Bone Mineralizationes_ES
dc.typeinfo:eu-repo/semantics/articlees_ES
dc.rights.accessRightsinfo:eu-repo/semantics/openAccesses_ES
dc.identifier.doi10.3390/ijms22094303
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersiones_ES


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