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Cebolla, Jorge J
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1

Nueva mutación asociada con la enfermedad de Niemann-Pick e..:

del Villar-Guerra, Pablo ; Reig, Celia ; Irún, Pilar...
Anales de Pediatría.  94 (2021)  5 - p. 327-330 , 2021
Link: https://doi.org/10.1016/..
 
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2

A novel mutation in two Spanish children with Niemann Pick ..:

del Villar-Guerra, Pablo ; Reig, Celia ; Irún, Pilar...
Anales de Pediatría (English Edition).  94 (2021)  5 - p. 327-330 , 2021
Link: https://doi.org/10.1016/..
 
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3

New variants in Spanish Niemann–Pick type c disease patient:

López de Frutos, Laura ; Cebolla, Jorge J. ; Aldámiz-Echevarría, Luis...
Molecular Biology Reports.  47 (2020)  3 - p. 2085-2095 , 2020
Link: https://doi.org/10.1007/..
 
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4

Serum protein electrophoresis pattern alterations on lipido..:

de Frutos, Laura López ; García-González, Elena ; Cebolla, Jorge J....
Molecular Genetics and Metabolism.  129 (2020)  2 - p. S100-S101 , 2020
Link: https://doi.org/10.1016/..
 
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5

Serum protein profile analysis in lysosomal storage disorde..:

López de Frutos, Laura ; García-González, Elena ; García-Rodríguez, Beatriz...
Clinica Chimica Acta.  510 (2020)  - p. 430-436 , 2020
Link: https://doi.org/10.1016/..
 
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6

Identification of risk features for complication in Gaucher..:

Andrade-Campos, Marcio M. ; de Frutos, Laura López ; Cebolla, Jorge J....
Orphanet Journal of Rare Diseases.  15 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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7

Evaluation of two approaches to lysosomal acid lipase defic..:

Cebolla, Jorge J. ; Irún, Pilar ; Mozas, Pilar.
Atherosclerosis.  285 (2019)  - p. 49-54 , 2019
Link: https://doi.org/10.1016/..
 
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8

Muscle-tendon weakness contributes to chronic fatigue syndr..:

Roca-Espiau, Mercedes ; Andrade-Campos, Marcio ; Cebolla, Jorge J....
Journal of Orthopaedic Surgery and Research.  14 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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9

Prospective multi-center national study to standardize the ..:

Andrade-Campos, Marcio M. ; Cebolla, Jorge J. ; de Frutos, Laura Lopez...
Molecular Genetics and Metabolism.  126 (2019)  2 - p. S22-S23 , 2019
Link: https://doi.org/10.1016/..
 
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10

Mutations identified in a cohort of Mexican patients with l..:

Consuelo-Sánchez, Alejandra ; Vázquez-Frias, Rodrigo ; Reyes-De La Rosa, Alejandra...
Annals of Hepatology.  18 (2019)  4 - p. 646-650 , 2019
Link: https://doi.org/10.1016/..
 
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11

Defective function of KCa3.1 channels in lysosomal disorder:

Giraldo, Pilar ; de Frutos, Laura Lopez ; Cebolla, Jorge...
Molecular Genetics and Metabolism.  123 (2018)  2 - p. S53 , 2018
Link: https://doi.org/10.1016/..
 
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12

The erythrocyte osmotic resistance test as screening tool f..:

López de Frutos, Laura ; Cebolla, Jorge J. ; Irún, Pilar..
Clinica Chimica Acta.  480 (2018)  - p. 161-165 , 2018
Link: https://doi.org/10.1016/..
 
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13

Discovery study for new genetic variants related to Niemann..:

de Frutos, Laura López ; Cebolla, Jorge J. ; Irún, Pilar.
Molecular Genetics and Metabolism.  123 (2018)  2 - p. S88 , 2018
Link: https://doi.org/10.1016/..
 
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14

Erythrocyte osmotic resistance test as a screening tool for..:

de Frutos, Laura López ; Cebolla, Jorge J. ; Irún, Pilar..
Molecular Genetics and Metabolism.  123 (2018)  2 - p. S89 , 2018
Link: https://doi.org/10.1016/..
 
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15

Mutations Identified in a Cohort of Mexican Patients with L..:

Consuelo-Sánchez, Alejandra ; Vázquez-Frías, Rodrigo ; Reyes-De la Rosa, Alejandra...
Annals of Hepatology.  17 (2018)  5 - p. 0-10 , 2018
Link: https://doi.org/10.5604/..
 
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