Publications by authors named "Nora Basack"

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Argentine program of home infusions with enzyme replacement therapy for lysosomal diseases: Results in safety, quality of life and adherence.
Guillermo Drelichman, Juan M Politei, Nicolás Fernandez Escobar, Barbara Soberón, Nora Basack

Mol Genet Metab· May 2025

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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.
Guillermo I Drelichman, Nicolas Fernández Escobar, Barbara C Soberon, Nora F Basack, Joaquin Frabasil

Mol Genet Metab Rep· December 2021

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Skeletal involvement in Gaucher disease: An observational multicenter study of prognostic factors in the Argentine Gaucher disease patients.
Guillermo Drelichman, Nicolás Fernández Escobar, Nora Basack, Luis Aversa, María Silvia Larroude

Am J Hematol· October 2016

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Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability.
Karen G Scheps, Liliana Francipane, Julián Nevado, Nora Basack, Myriam Attie

Am J Med Genet A· April 2016

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Coinheritance of a novel mutation on the HBA1 gene: c.187delG (p.W62fsX66) [codon 62 (-G) (α1)] with the α212 patchwork allele and Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T].
Karen G Scheps, Silvia M De Paula, Alicia R Bitsman, Daniel H Freigeiro, F Nora Basack

Hemoglobin· April 2014

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Clinical consequences of interrupting enzyme replacement therapy in children with type 1 Gaucher disease.
Guillermo Drelichman, Elvira Ponce, Nora Basack, Daniel Freigeiro, Luis Aversa

J Pediatr· August 2007

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Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations.
Jazmin El-Hakeh, Sergio Rosenzweig, Matias Oleastro, Nora Basack, Liliana Berozdnik

Hum Mutat· February 2002

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