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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: schenone ab. 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.
Skeletal involvement in Gaucher disease: An observational multicenter study of prognostic factors in the Argentine Gaucher disease patients.
Drelichman G, Fernández Escobar N, Basack N, Aversa L, Larroude MS, Aguilar G, Szlago M, Schenone A, Fynn A, Cuello MF, Aznar M, Fernández R, Ruiz A, Reichel P, Guelbert N, Robledo H, Watman N, Bolesina M, Elena G, Veber SE, Pujal G, Galván G, Chain JJ, Arizo A, Bietti J, Bar D, Dragosky M, Marquez M, Feldman L, Muller K, Zirone S, Buchovsky G, Lanza V, Sanabria A, Fernández I, Jaureguiberry R, Contte M, Barbieri María A, Maro A, Zárate G, Fernández G, Rapetti MC, Donato H, Degano A, Kantor G, Albina R, Á Lvarez Bollea M, Brun M, Bacciedoni V, Del Río F, Soberón B, Boido N, Schweri M, Borchichi S, Welsh V, Corrales M, Cedola A, Carvani A, Diez B, Richard L, Baduel C, Nuñez G, Colimodio R, Barazzutti L, Medici H, Meschengieser S, Damiani G, Nucifora M, Girardi B, Gómez S, Papucci M, Verón D, Quiroga L, Carro G, De Ambrosio P, Ferro J, Pujol M, Castella CC, Franco L, Nisnovich G, Veloso M, Pacheco I, Savarino M, Marino A, Saavedra JL. Drelichman G, et al. Am J Hematol. 2016 Oct;91(10):E448-53. doi: 10.1002/ajh.24486. Epub 2016 Aug 22. Am J Hematol. 2016. PMID: 27420181 Free 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. 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
Infantile-onset Pompe disease: Diagnosis and management.
Bay LB, Denzler I, Durand C, Eiroa H, Frabasil J, Fainboim A, Maxit C, Schenone A, Spécola N. Bay LB, et al. Arch Argent Pediatr. 2019 Aug 1;117(4):271-278. doi: 10.5546/aap.2019.eng.271. Arch Argent Pediatr. 2019. PMID: 31339275 Free article. English, Spanish.
Incidental finding of cornea verticillata or lamellar inclusions in kidney biopsy: measurement of lyso-Gb3 in plasma defines between Fabry disease and drug-induced phospholipidosis.
Politei J, Frabasil J, Durand C, Di Pietrantonio S, Fernandez A, Albertón V, Velasquez Rivas D, Barriales-Villa R, Larrañaga-Moreira J, Schenone AB. Politei J, et al. Among authors: schenone ab. Biochim Biophys Acta Mol Basis Dis. 2021 Jan 1;1867(1):165985. doi: 10.1016/j.bbadis.2020.165985. Epub 2020 Oct 3. Biochim Biophys Acta Mol Basis Dis. 2021. PMID: 33022387 Free article.
New recommendations for the care of patients with mucopolysaccharidosis type I.
Bay L, Amartino H, Antacle A, Arberas C, Berretta A, Botto H, Cazalas M, Copiz A, De Cunto C, Drelichman G, Espada G, Eiroa H, Fainboim A, Fano V, Guelber R, Maffey A, Parisi C, Pereyra M, Remondino R, Schenone A, Spécola N, Staciuk R, Zuccaro G. Bay L, et al. Arch Argent Pediatr. 2021 Apr;119(2):e121-e128. doi: 10.5546/aap.2021.eng.e121. Arch Argent Pediatr. 2021. PMID: 33749201 Free article. Review. English, Spanish.
Clinical parameters, LysoGb3, podocyturia, and kidney biopsy in children with Fabry disease: is a correlation possible?
Politei J, Alberton V, Amoreo O, Antongiovanni N, Arán MN, Barán M, Cabrera G, Di Pietrantonio S, Durand C, Fainboim A, Frabasil J, Pizarro FG, Iotti R, Liern M, Perretta F, Ripeau D, Toniolo F, Trimarchi H, Rivas DV, Wallace E, Schenone AB. Politei J, et al. Among authors: schenone ab. Pediatr Nephrol. 2018 Nov;33(11):2095-2101. doi: 10.1007/s00467-018-4006-3. Epub 2018 Jul 9. Pediatr Nephrol. 2018. PMID: 29987457
A few challenges in mucopolysaccharidosis type I.
Bay L, Amartino H, Antacle A, Arberas C, Berretta A, Botto H, Cazalas M, Copiz A, De Cunto C, Drelichman G, Espada G, Eiroa H, Fainboim A, Fano V, Guelber N, Maffey A, Parisi C, Pereyra M, Remondino R, Schenone A, Spécola N, Staciuk R, Zuccaro G. Bay L, et al. Arch Argent Pediatr. 2021 Jun;119(3):e193-e201. doi: 10.5546/aap.2021.e193. Arch Argent Pediatr. 2021. PMID: 34033424 Free article. English, Spanish.
29 results