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Fabry disease in latin america: data from the fabry registry.
Villalobos J, Politei JM, Martins AM, Cabrera G, Amartino H, Lemay R, Ospina S, Ordoñez SS, Varas C. Villalobos J, et al. Among authors: ospina s. JIMD Rep. 2013;8:91-9. doi: 10.1007/8904_2012_165. Epub 2012 Jul 6. JIMD Rep. 2013. PMID: 23430525 Free PMC article.
Utility of rare disease registries in latin america.
Martins AM, Kerstenezky M, Linares A, Politei J, Kohan R, Ospina S, Varas C, Villalobos J, Amartino H, Franco S, Valadez G, Giugliani R, Guerra P, Sanches L. Martins AM, et al. Among authors: ospina s. JIMD Rep. 2011;1:111-5. doi: 10.1007/8904_2011_25. Epub 2011 Jun 25. JIMD Rep. 2011. PMID: 23430837 Free PMC article.
Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru.
Pineda T, Marie S, Gonzalez J, García AL, Acosta A, Morales M, Correa LN, Vivas R, Escobar X, Protzel A, Barba M, Ospina S, Corredor C, Mansilla S, Velasco HM. Pineda T, et al. Among authors: ospina s. Mol Genet Metab Rep. 2014 Oct 30;1:468-473. doi: 10.1016/j.ymgmr.2014.10.001. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896125 Free PMC article.
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.
O'Rawe JA, Wu Y, Dörfel MJ, Rope AF, Au PY, Parboosingh JS, Moon S, Kousi M, Kosma K, Smith CS, Tzetis M, Schuette JL, Hufnagel RB, Prada CE, Martinez F, Orellana C, Crain J, Caro-Llopis A, Oltra S, Monfort S, Jiménez-Barrón LT, Swensen J, Ellingwood S, Smith R, Fang H, Ospina S, Stegmann S, Den Hollander N, Mittelman D, Highnam G, Robison R, Yang E, Faivre L, Roubertie A, Rivière JB, Monaghan KG, Wang K, Davis EE, Katsanis N, Kalscheuer VM, Wang EH, Metcalfe K, Kleefstra T, Innes AM, Kitsiou-Tzeli S, Rosello M, Keegan CE, Lyon GJ. O'Rawe JA, et al. Among authors: ospina s. Am J Hum Genet. 2015 Dec 3;97(6):922-32. doi: 10.1016/j.ajhg.2015.11.005. Am J Hum Genet. 2015. PMID: 26637982 Free PMC article.
Echocardiographic Changes Following Surgical Myectomy in Severely Symptomatic Obstructive Hypertrophic Cardiomyopathy: Insights From the SPIRIT-HCM Study.
Desai MY, Szpakowski N, Tower-Rader A, Bittel B, Fava A, Ospina S, Xu B, Thamilarasan M, Mentias A, Smedira NG, Popovic ZB. Desai MY, et al. Among authors: ospina s. J Am Heart Assoc. 2025 Jan 7;14(1):e037058. doi: 10.1161/JAHA.124.037058. Epub 2024 Dec 24. J Am Heart Assoc. 2025. PMID: 39719417 Free article.
60 results