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Hypophosphatasia: A Unique Disorder of Bone Mineralization.
Villa-Suárez JM, García-Fontana C, Andújar-Vera F, González-Salvatierra S, de Haro-Muñoz T, Contreras-Bolívar V, García-Fontana B, Muñoz-Torres M. Villa-Suárez JM, et al. Int J Mol Sci. 2021 Apr 21;22(9):4303. doi: 10.3390/ijms22094303. Int J Mol Sci. 2021. PMID: 33919113 Free PMC article. Review.
Characterization of Genetic Variants of Uncertain Significance for the ALPL Gene in Patients With Adult Hypophosphatasia.
Sanabria-de la Torre R, Martínez-Heredia L, González-Salvatierra S, Andújar-Vera F, Iglesias-Baena I, Villa-Suárez JM, Contreras-Bolívar V, Corbacho-Soto M, Martínez-Navajas G, Real PJ, García-Fontana C, Muñoz-Torres M, García-Fontana B. Sanabria-de la Torre R, et al. Among authors: villa suarez jm. Front Endocrinol (Lausanne). 2022 Apr 14;13:863940. doi: 10.3389/fendo.2022.863940. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35498405 Free PMC article.
Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene.
García-Fontana C, Villa-Suárez JM, Andújar-Vera F, González-Salvatierra S, Martínez-Navajas G, Real PJ, Gómez Vida JM, de Haro T, García-Fontana B, Muñoz-Torres M. García-Fontana C, et al. Among authors: villa suarez jm. Sci Rep. 2019 Jul 2;9(1):9569. doi: 10.1038/s41598-019-46004-2. Sci Rep. 2019. PMID: 31267001 Free PMC article.
Mild hypophosphatasia may be twice as prevalent as previously estimated: an effective clinical algorithm to detect undiagnosed cases.
González-Cejudo T, Villa-Suárez JM, Ferrer-Millán M, Andújar-Vera F, Contreras-Bolívar V, Andreo-López MC, Gómez-Vida JM, Martínez-Heredia L, González-Salvatierra S, de Haro Muñoz T, García-Fontana C, Muñoz-Torres M, García-Fontana B. González-Cejudo T, et al. Among authors: villa suarez jm. Clin Chem Lab Med. 2023 Jul 14;62(1):128-137. doi: 10.1515/cclm-2023-0427. Print 2024 Jan 26. Clin Chem Lab Med. 2023. PMID: 37440753 Free article.