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Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations.
Hum Mutat. 2002 Feb;19(2):186-7. doi: 10.1002/humu.9013.
Hum Mutat. 2002.
PMID: 11793485
Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability.
Scheps KG, Francipane L, Nevado J, Basack N, Attie M, Bergonzi MF, Cerrone GE, Lapunzina P, Varela V.
Scheps KG, et al. Among authors: basack n.
Am J Med Genet A. 2016 Apr;170A(4):986-91. doi: 10.1002/ajmg.a.37532. Epub 2016 Jan 11.
Am J Med Genet A. 2016.
PMID: 26753516
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Clinical consequences of interrupting enzyme replacement therapy in children with type 1 Gaucher disease.
Drelichman G, Ponce E, Basack N, Freigeiro D, Aversa L, Graciela E, Kohan R.
Drelichman G, et al. Among authors: basack n.
J Pediatr. 2007 Aug;151(2):197-201. doi: 10.1016/j.jpeds.2007.02.057. Epub 2007 Jun 22.
J Pediatr. 2007.
PMID: 17643778
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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: basack nf.
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.
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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: basack n.
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
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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. Among authors: basack n.
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.
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