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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. 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
The road to biosimilars in rare diseases - ongoing lessons from Gaucher disease.
Drelichman G, Castañeda-Hernández G, Cem Ar M, Dragosky M, Garcia R, Lee H, Moiseev S, Naderi M, Rosenbaum H, Žnidar I, Zuluaga AF, Freisens S, Mistry PK. Drelichman G, et al. Am J Hematol. 2020 Mar;95(3):233-237. doi: 10.1002/ajh.25701. Epub 2019 Dec 23. Am J Hematol. 2020. PMID: 31816110 Free PMC article. Review. No abstract available.
Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1.
Mistry PK, Balwani M, Baris HN, Turkia HB, Burrow TA, Charrow J, Cox GF, Danda S, Dragosky M, Drelichman G, El-Beshlawy A, Fraga C, Freisens S, Gaemers S, Hadjiev E, Kishnani PS, Lukina E, Maison-Blanche P, Martins AM, Pastores G, Petakov M, Peterschmitt MJ, Rosenbaum H, Rosenbloom B, Underhill LH, Cox TM. Mistry PK, et al. Blood Cells Mol Dis. 2018 Jul;71:71-74. doi: 10.1016/j.bcmd.2018.04.001. Epub 2018 Apr 9. Blood Cells Mol Dis. 2018. PMID: 29680197 Free article. No abstract available.
Addendum to Letter to the Editor: Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1.
Mistry PK, Balwani M, Baris HN, Turkia HB, Burrow TA, Charrow J, Cox GF, Danda S, Dragosky M, Drelichman G, El-Beshlawy A, Fraga C, Freisens S, Gaemers S, Hadjiev E, Kishnani PS, Lukina E, Maison-Blanche P, Martins AM, Pastores G, Petakov M, Peterschmitt MJ, Rosenbaum H, Rosenbloom B, Underhill LH, Cox TM. Mistry PK, et al. Blood Cells Mol Dis. 2019 Jul;77:101-102. doi: 10.1016/j.bcmd.2019.04.003. Epub 2019 Apr 9. Blood Cells Mol Dis. 2019. PMID: 31029022 No abstract available.
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.
24 results