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Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease.
Drelichman GI, Fernández Escobar N, Soberon BC, Basack NF, Frabasil J, Schenone AB, Aguilar G, Larroudé MS, Knight JR, Zhao D, Ruan J, Mistry PK; Argentine Group for Diagnosis and Treatment of Gaucher Disease. Drelichman GI, et al. Among authors: aguilar g. Mol Genet Metab Rep. 2021 Nov 11;29:100820. doi: 10.1016/j.ymgmr.2021.100820. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34820281 Free PMC article.
Evaluation of Bone Mineral Density in Patients with Type 1 Gaucher Disease in Argentina.
Larroudé MS, Aguilar G, Rossi I, Drelichman G, Fernandez Escobar N, Basack N, Slago M, Schenone A, Fynn A, Cuello MF, Fernandez R, Ruiz A, Reichel P, Guelbert N, Robledo H, Watman N, Bolesina M, Elena G, Veber SE, Pujal G, Galvan G, Chain JJ, Arizo A, Bietti J, Aznar M, Dragosky M, Marquez M, Feldman L, Muller K, Zirone S, Buchovsky G, Lanza V, Fernandez I, Jaureguiberry R, Barbieri MA, Maro A, Zarate G, Fernandez G, Rapetti M, Degano A, Kantor G, Albina A, Alvarez Bollea M, Arrocena H, Bacciedoni V, Del Rio F. Larroudé MS, et al. Among authors: aguilar g. J Clin Densitom. 2016 Oct;19(4):444-449. doi: 10.1016/j.jocd.2016.07.003. Epub 2016 Aug 26. J Clin Densitom. 2016. PMID: 27574779
Reliability of OMERACT ultrasound elementary lesions in gout: results from a multicenter exercise.
Cazenave T, Martire V, Reginato AM, Gutierrez M, Waimann CA, Pineda C, Rosa JE, Ruta S, Sedano-Santiago O, Bertoli AM, Audisio M, Hernandez-Diaz C, Ventura-Rios L, Quintero M, De Miguel E, Alvarez-Del-Castillo-Araujo AL, Abril A, Ayala-Ledesma EN, Alarcon-Isidro E, Santiago ML, Pera MA, Urquiola C, Rodriguez Gil G, Saldarriaga Rivera LM, Cefferino C, Benegas M, Diaz Cortes ME, Bravo M, Peiteado D, Estrella NA, Micas RA, Saavedra Muñoz J, Arape Toyo RDC, Gálvez Elkin MS, Spindler WJ, Sandobal C, Marin J, Lima Gomes Ochtrop M, Pavao Ayala R, Catay ER, Py GE, Aguilar GH, Rengel Colina YY, Airoldi CA, Mora-Trujillo CS, Kohan MP, Urioste Eguez LE, Castillo-Gallego C, Diaz-Coto JF, Tate P, Saucedo CM, Vega-Hinojosa O, Troitiño CJ, Marengo MF, Marcaida PM, Monjo Henry I, Muñoz-Louis R, Solano C, Fernandez Castillo FR, Graf CE, Guinsburg M, Santa Cruz MJ, Navarta Ortiz DA, Alva Linares M, Rosemffet MG; Pan-American League of Associations for Rheumatology (PANLAR) Ultrasound Study Group. Cazenave T, et al. Among authors: aguilar gh. Rheumatol Int. 2019 Apr;39(4):707-713. doi: 10.1007/s00296-018-4220-0. Epub 2018 Dec 11. Rheumatol Int. 2019. PMID: 30539275
407 results