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PubMed (GeneRIF) for id: 249

207 results

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Page 1
Systemic effects of hypophosphatasia characterization of two novel variants in the ALPL gene.
Martínez-Heredia L, Muñoz-Torres M, Sanabria-de la Torre R, Jiménez-Ortas Á, Andújar-Vera F, González-Cejudo T, Contreras-Bolívar V, González-Salvatierra S, Gómez-Vida JM, García-Fontana C, García-Fontana B. Martínez-Heredia L, et al. Front Endocrinol (Lausanne). 2024 Jan 3;14:1320516. doi: 10.3389/fendo.2023.1320516. eCollection 2023. Front Endocrinol (Lausanne). 2024. PMID: 38234425 Free PMC article.
Musculoskeletal pain and muscular weakness as the main symptoms of adult hypophosphatasia in a Spanish cohort: clinical characterization and identification of a new ALPL gene variant.
Calmarza P, Lapresta C, Martínez García M, Ochoa J, Sienes Bailo P, Acha Pérez J, Beltrán Audera J, González-Roca E. Calmarza P, et al. J Bone Miner Metab. 2023 Sep;41(5):654-665. doi: 10.1007/s00774-023-01440-z. Epub 2023 Jun 23. J Bone Miner Metab. 2023. PMID: 37351650
Not just a carrier: Clinical presentation and management of patients with heterozygous disease-causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening.
Beck NM, Sagaser KG, Lawson CS, Hertenstein C, Jachens A, Forster KR, Miller KA, Jelin AC, Blakemore KJ, Hoover-Fong J. Beck NM, et al. Mol Genet Genomic Med. 2023 Jan;11(1):e2056. doi: 10.1002/mgg3.2056. Epub 2022 Nov 28. Mol Genet Genomic Med. 2023. PMID: 36444396 Free PMC article.
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. 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.
207 results