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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. Among authors: schenone a. 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.
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. Among authors: schenone a. 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.
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. Among authors: schenone a. 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
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.
[Argentine consensus on late-onset Pompe's disease].
Dubrovsky A, Fulgenzi E, De Vito EL, Barroso F, Berardo A, Bettini M, Binaghi D, Calabrese E, Carlés D, Chaves M, Chloca F, Conti E, Corderi J, Di Gennaro F, Ferradás N, Jáuregui A, Lubieniecki F, Mazia C, Medina M, Pirra L, Politei J, Reisin R, Rosa AL, Rugiero M, Salutto V, Schenone A, Sussini M, Taratuto AL. Dubrovsky A, et al. Among authors: schenone a. Medicina (B Aires). 2018;78 Suppl 1:1-23. Medicina (B Aires). 2018. PMID: 30179846 Free article. Spanish.
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. 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.
486 results