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Vairo, Filippo
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1

Development of a scoring system to define lysosomal disease:

Wilke, Matheus V. ; Goldstein, Jennifer ; Groopman, Emily...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 108083 , 2024
Link: https://doi.org/10.1016/..
 
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2

The ClinGen Lysosomal Diseases Gene Curation Panel: Applyin..:

Groopman, Emily ; Fernandez, Raquel ; Mohan, Shruthi...
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107128 , 2023
Link: https://doi.org/10.1016/..
 
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3

Pilot study of newborn screening for six lysosomal diseases..:

Kubaski, Francyne ; Sousa, Ines ; Amorim, Tatiana...
Molecular Genetics and Metabolism.  140 (2023)  1-2 - p. 107654 , 2023
Link: https://doi.org/10.1016/..
 
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4

GENOME SEQUENCING FOR PATIENTS WITH SUSPECTED INHERITED MET..:

Schwartz, Ida Vanessa Doederlein ; Silva, Thiago Oliveira ; Poswar, Fabiano...
Molecular Genetics and Metabolism.  138 (2023)  3 - p. 107405 , 2023
Link: https://doi.org/10.1016/..
 
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5

Mucopolysaccharidosis Type I:

Kubaski, Francyne ; de Oliveira Poswar, Fabiano ; Michelin-Tirelli, Kristiane...
Diagnostics.  10 (2020)  3 - p. 161 , 2020
Link: https://doi.org/10.3390/..
 
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6

Clinical and Functional Consequences of C-Terminal Variants..:

van Geest, Ferdy S ; Meima, Marcel E ; Stuurman, Kyra E...
The Journal of Clinical Endocrinology & Metabolism.  106 (2020)  2 - p. 539-553 , 2020
Link: https://doi.org/10.1210/..
 
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7

Estimated prevalence of mucopolysaccharidoses from populati..:

Borges, Pâmella ; Pasqualim, Gabriela ; Giugliani, Roberto..
Orphanet Journal of Rare Diseases.  15 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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8

Humoral immune response in adult Brazilian patients with Mu..:

Sperb-Ludwig, Fernanda ; Alegra, Taciane ; Velho, Renata Voltolini...
Genetics and Molecular Biology.  42 (2019)  3 - p. 571-573 , 2019
Link: https://doi.org/10.1590/..
 
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9

Breastfeeding in patients with Gaucher disease: Is taligluc..:

Paskulin, Livia ; Dornelles, Alícia Dorneles ; Quevedo, Amanda...
Molecular Genetics and Metabolism Reports.  18 (2019)  - p. 30-31 , 2019
Link: https://doi.org/10.1016/..
 
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10

Lysosomal diseases: Overview on current diagnosis and treat..:

Poswar, Fabiano de Oliveira ; Vairo, Filippo ; Burin, Maira...
Genetics and Molecular Biology.  42 (2019)  1 suppl 1 - p. 165-177 , 2019
Link: https://doi.org/10.1590/..
 
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11

Genetic analysis of patients with fructose-1,6-bisphosphata..:

Pinheiro, Franciele Cabral ; Sperb-Ludwig, Fernanda ; Ligabue-Braun, Rodrigo...
Gene.  699 (2019)  - p. 102-109 , 2019
Link: https://doi.org/10.1016/..
 
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12

Leigh Syndrome Due to mtDNA Pathogenic Variants:

Pereira, Cristina ; Souza, Carolina Fischinger de ; Vedolin, Leonardo...
Journal of Inborn Errors of Metabolism and Screening.  7 (2019)  - p. , 2019
Link: https://doi.org/10.1590/..
 
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13

Attenuated mucopolysaccharidosis type VI: The need for a hi..:

Conboy, Erin E. ; Jin, Jay J. ; Vairo, Filippo.
Molecular Genetics and Metabolism.  123 (2018)  2 - p. S33 , 2018
Link: https://doi.org/10.1016/..
 
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14

Could enzyme replacement therapy promote immune tolerance i..:

Matta, Marina Cadena ; Vairo, Filippo ; Torres, Leuridan Cavalcante.
Blood Cells, Molecules, and Diseases.  68 (2018)  - p. 200-202 , 2018
Link: https://doi.org/10.1016/..
 
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15

Biomarkers of vitamin B 12status respond to therapy in Gauc..:

Basgalupp, Suelen P. ; Siebert, Marina ; Vairo, Filippo...
Molecular Genetics and Metabolism.  123 (2018)  2 - p. S23 , 2018
Link: https://doi.org/10.1016/..
 
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