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Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.
Hisado-Oliva A, Garre-Vázquez AI, Santaolalla-Caballero F, Belinchón A, Barreda-Bonis AC, Vasques GA, Ramirez J, Luzuriaga C, Carlone G, González-Casado I, Benito-Sanz S, Jorge AA, Campos-Barros A, Heath KE. Hisado-Oliva A, et al. J Clin Endocrinol Metab. 2015 Aug;100(8):E1133-42. doi: 10.1210/jc.2015-1612. Epub 2015 Jun 15. J Clin Endocrinol Metab. 2015. PMID: 26075495
Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease.
Andrade-Campos M, Alfonso P, Irun P, Armstrong J, Calvo C, Dalmau J, Domingo MR, Barbera JL, Cano H, Fernandez-Galán MA, Franco R, Gracia I, Gracia-Antequera M, Ibañez A, Lendinez F, Madruga M, Martin-Hernández E, O'Callaghan MDM, Del Soto AP, Del Prado YR, Sancho-Val I, Sanjurjo P, Pocovi M, Giraldo P. Andrade-Campos M, et al. Orphanet J Rare Dis. 2017 May 3;12(1):84. doi: 10.1186/s13023-017-0627-z. Orphanet J Rare Dis. 2017. PMID: 28468677 Free PMC article.
Implantation of a biochemical and genetic screening programme for family hypercholesterolaemia. Collaboration between the clinical laboratory and lipid units: Design of the ARIAN Project.
Arrobas Velilla T, Brea Á, Valdivielso P; los investigadores del Proyecto ARIAN; Investigadores del proyecto ARA. Arrobas Velilla T, et al. Clin Investig Arterioscler. 2021 Nov-Dec;33(6):289-295. doi: 10.1016/j.arteri.2021.03.004. Epub 2021 Jun 3. Clin Investig Arterioscler. 2021. PMID: 34090714 English, Spanish.