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Villarrubia, Jesus
123  results:
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1

Study of adult and pediatric patients with idiopathic splen..:

Morado, Marta ; Villarrubia, Jesus ; Vitoria, Isidro..
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107966 , 2024
Link: https://doi.org/10.1016/..
 
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2

Ecological study to determine the estimated prevalence of p..:

Villarrubia, Jesus
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107347 , 2023
Link: https://doi.org/10.1016/..
 
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3

P1483: LONG-TERM IMPACT OF OLIPUDASE ALFA ENZYME REPLACEMEN..:

Villarrubia, Jesus ; Ganesh, Jaya ; Giugliani, Roberto...
HemaSphere.  7 (2023)  S3 - p. e18031f6 , 2023
Link: https://doi.org/10.1097/..
 
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4

Value contribution of olipudase alfa therapy for the treatm..:

Villarrubia, Jesus ; Colomer, Elena Lucia Gras ; Baret, Mateo
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107348 , 2023
Link: https://doi.org/10.1016/..
 
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5

Continued improvement in disease manifestations of acid sph..:

Wasserstein, Melissa P. ; Lachmann, Robin ; Hollak, Carla...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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6

A randomized, placebo-controlled clinical trial evaluating ..:

Wasserstein, Melissa ; Lachmann, Robin ; Hollak, Carla...
Genetics in Medicine.  24 (2022)  7 - p. 1425-1436 , 2022
Link: https://doi.org/10.1016/..
 
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7

Genetic screening of lysosomal disorders: An account of fiv..:

del Castillo, Francisco J. ; Muñoz, Gloria ; Gandía, Marta...
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S36 , 2022
Link: https://doi.org/10.1016/..
 
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8

eP280: Continued improvement in adults with acid sphingomye..:

Wasserstein, Melissa ; Barbato, Antonio ; Gallagher, Renata...
Genetics in Medicine.  24 (2022)  3 - p. S176-S177 , 2022
Link: https://doi.org/10.1016/..
 
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9

NGS-based panel screening of suspected lysosomal disease ca..:

del Castillo, Francisco J. ; Muñoz, Gloria ; Domínguez-Ruiz, María...
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S36 , 2022
Link: https://doi.org/10.1016/..
 
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10

Adult acid sphingomyelinase deficiency (Niemann-Pick diseas..:

Villarrubia, Jesús ; Muñoz, Gloria ; Ciubotariu, Crina...
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S125 , 2022
Link: https://doi.org/10.1016/..
 
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11

Two-year results of the ASCEND trial of olipudase alfa adul..:

Wasserstein, Melissa P. ; Barbato, Antonio ; Gallagher, Renata C....
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S126-S127 , 2022
Link: https://doi.org/10.1016/..
 
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12

Development and validation of a sequential two-step algorit..:

Piris-Villaespesa, Miguel ; Álvarez-Larrán, Alberto ; Saez-Marín, Adolfo...
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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13

PREDIGA project: Preliminary results of the Spanish multice..:

Villarrubia, Jesus ; Calderon, Enrique ; Torralba, Miguel Angel...
Molecular Genetics and Metabolism.  132 (2021)  2 - p. S109-S110 , 2021
Link: https://doi.org/10.1016/..
 
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14

One-year results of the placebo-controlled ASCEND trial of ..:

Wasserstein, Melissa ; Arash-Kaps, Laila ; Barbato, Antonio...
Molecular Genetics and Metabolism.  132 (2021)  - p. S64-S65 , 2021
Link: https://doi.org/10.1016/..
 
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15

Adults with chronic acid sphingomyelinase deficiency show s..:

Wasserstein, Melissa ; Arash-Kaps, Laila ; Barbato, Antonio...
Molecular Genetics and Metabolism.  132 (2021)  2 - p. S110 , 2021
Link: https://doi.org/10.1016/..
 
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