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Frabasil, J.
26  results:
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1

Incidental finding of cornea verticillata or lamellar inclu..:

Politei, J. ; Frabasil, J. ; Durand, C....
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.  1867 (2021)  1 - p. 165985 , 2021
Link: https://doi.org/10.1016/..
 
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2

Argentine bone project- 11 years of experience: A study by ..:

Escobar, Nicolas Fernandez ; Soberon, Barbara ; Basack, Nora...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107823 , 2024
Link: https://doi.org/10.1016/..
 
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3

Correlation analysis between lysosomal enzyme activities an..:

Frabasil, Joaquin ; Rivas, Dana Velasquez ; Bertot, Gustavo M....
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S43 , 2022
Link: https://doi.org/10.1016/..
 
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4

Increased levels of Lyso-Gb1 in dried blood spots in non-Ga..:

Rivas, Dana Velasquez ; Frabasil, Joaquin ; Colmenares, Gabriela...
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S124 , 2022
Link: https://doi.org/10.1016/..
 
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5

A new algorithm for Gaucher disease diagnosis in dried bloo..:

Frabasil, Joaquin ; Rivas, Dana Velasquez ; Durand, Consuelo.
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S43-S44 , 2022
Link: https://doi.org/10.1016/..
 
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6

Long-read single molecule real-time (SMRT) sequencing of GB..:

Drelichman, Guillermo I. ; Fernández Escobar, Nicolas ; Soberon, Barbara C....
Molecular Genetics and Metabolism Reports.  29 (2021)  - p. 100820 , 2021
Link: https://doi.org/10.1016/..
 
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7

Genotype-Phenotype Variations of Renal Complications in Fab..:

Villalobos, Jacobo ; García, Carmen C. ; Politei, Juan..
Journal of Inborn Errors of Metabolism and Screening.  8 (2020)  - p. , 2020
Link: https://doi.org/10.1590/..
 
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8

Mucopolysaccharidosis type VII: Clinical and biochemical da..:

Durand, Consuelo ; Frabasil, Joaquín ; Politei, Juan...
Molecular Genetics and Metabolism.  126 (2019)  2 - p. S51 , 2019
Link: https://doi.org/10.1016/..
 
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9

Clinical, biochemical and molecular characteristics of five..:

Atanacio, Nora G. ; Durand, Consuelo ; Villanueva, Mercedes...
Molecular Genetics and Metabolism.  126 (2019)  2 - p. S26 , 2019
Link: https://doi.org/10.1016/..
 
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10

Mucopolysaccharidosis type VII: Selective retrospective scr..:

Frabasil, Joaquin ; Durand, Consuelo ; Sokn, Silvia...
Molecular Genetics and Metabolism.  126 (2019)  2 - p. S56 , 2019
Link: https://doi.org/10.1016/..
 
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11

Prevalence of Fabry disease in male dialysis patients: Arge..:

Frabasil, Joaquín ; Durand, Consuelo ; Sokn, Silvia...
JIMD Reports.  48 (2019)  1 - p. 45-52 , 2019
Link: https://doi.org/10.1002/..
 
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12

Clinical, serum lyso-Gl3 and kidney histological findings i..:

Politei, Juan ; Alberton, Valeria ; Amoreo, Oscar...
Molecular Genetics and Metabolism.  123 (2018)  2 - p. S118-S119 , 2018
Link: https://doi.org/10.1016/..
 
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13

Screening of Fabry disease in male hemodialysis patients: P..:

Frabasil, Joaquin ; Sokn, Silvia ; Durand, Consuelo..
Molecular Genetics and Metabolism.  123 (2018)  2 - p. S47-S48 , 2018
Link: https://doi.org/10.1016/..
 
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14

Clinical parameters, LysoGb3, podocyturia, and kidney biops..:

Politei, Juan ; Alberton, Valeria ; Amoreo, Oscar...
Pediatric Nephrology.  33 (2018)  11 - p. 2095-2101 , 2018
Link: https://doi.org/10.1007/..
 
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15

Fabry disease: Multi-disciplinary evaluation after 15 years..:

Politei, Juan ; Cabrera, Gustavo ; Durand, Consuelo..
Molecular Genetics and Metabolism.  123 (2018)  2 - p. S119 , 2018
Link: https://doi.org/10.1016/..
 
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