نتائج البحث - "Cebolla, Jorge J."

1

دورية أكاديمية

A novel mutation in two Spanish children with Niemann Pick disease: description of genotype, sphingomyelinase activity, phenotype and review

المؤلفون: del Villar-Guerra, Pablo, Reig, Celia, Irún, Pilar, Moreno, Blanca, Giraldo, Pilar, Cebolla, Jorge J.

المصدر: Anales de Pediatría (English Edition) ; volume 94, issue 5, page 327-330 ; ISSN 2341-2879

مصطلحات موضوعية: Management of Technology and Innovation

الإتاحة: https://doi.org/10.1016Test/j.anpede.2020.08.001
https://api.elsevier.com/content/article/PII:S2341287920301344?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2341287920301344?httpAccept=text/plainTest

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2

دورية أكاديمية

Nueva mutación asociada con la enfermedad de Niemann-Pick en dos niños españoles: descripción del genotipo, actividad de la esfingomielinasa ácida, fenotipo y revisión

المؤلفون: del Villar-Guerra, Pablo, Reig, Celia, Irún, Pilar, Moreno, Blanca, Giraldo, Pilar, Cebolla, Jorge J.

المصدر: Anales de Pediatría ; volume 94, issue 5, page 327-330 ; ISSN 1695-4033

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016Test/j.anpedi.2020.03.021
https://api.elsevier.com/content/article/PII:S1695403320302319?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1695403320302319?httpAccept=text/plainTest

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3

دورية أكاديمية

Identification of risk features for complication in Gaucher’s disease patients: a machine learning analysis of the Spanish registry of Gaucher disease

المؤلفون: Andrade-Campos, Marcio M., de Frutos, Laura López, Cebolla, Jorge J., Serrano-Gonzalo, Irene, Medrano-Engay, Blanca, Roca-Espiau, Mercedes, Gomez-Barrera, Beatriz, Pérez-Heredia, Jorge, Iniguez, David, Giraldo, Pilar

المصدر: Orphanet Journal of Rare Diseases ; volume 15, issue 1 ; ISSN 1750-1172

مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/s13023-020-01520-7Test

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4

دورية أكاديمية

Muscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher’s disease

المؤلفون: Roca-Espiau, Mercedes, Andrade-Campos, Marcio, Cebolla, Jorge J., López de Frutos, Laura, Medrano-Engay, Blanca, López-Royo, Maria-Pilar, Giraldo, Pilar

المساهمون: FEETEG

المصدر: Journal of Orthopaedic Surgery and Research ; volume 14, issue 1 ; ISSN 1749-799X

مصطلحات موضوعية: Orthopedics and Sports Medicine, Surgery

الإتاحة: https://doi.org/10.1186/s13018-019-1452-yTest

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5

دورية أكاديمية

Mutations identified in a cohort of Mexican patients with lysosomal acid lipase deficiency

المؤلفون: Consuelo-Sánchez, Alejandra, Vázquez-Frias, Rodrigo, Reyes-De La Rosa, Alejandra, Acosta-Rodríguez-Bueno, Carlos P., Ortal-Vite, María P., Cebolla, Jorge J.

المصدر: Annals of Hepatology ; volume 18, issue 4, page 646-650 ; ISSN 1665-2681

مصطلحات موضوعية: Hepatology, General Medicine

الإتاحة: https://doi.org/10.1016Test/j.aohep.2018.07.005
https://api.elsevier.com/content/article/PII:S1665268119300699?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1665268119300699?httpAccept=text/plainTest

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6

دورية أكاديمية

Inhibition of Intermediate-Conductance Calcium-Activated K Channel (KCa3.1) and Fibroblast Mitogenesis by α-Linolenic Acid and Alterations of Channel Expression in the Lysosomal Storage Disorders, Fabry Disease, and Niemann Pick C

المؤلفون: Oliván-Viguera, Aida, Lozano-Gerona, Javier, López de Frutos, Laura, Cebolla, Jorge J., Irún, Pilar, Abarca-Lachen, Edgar, García-Malinis, Ana J., García-Otín, Ángel Luis, Gilaberte, Yolanda, Giraldo, Pilar, Köhler, Ralf

المساهمون: Instituto de Salud Carlos III

المصدر: Frontiers in Physiology ; volume 8 ; ISSN 1664-042X

الإتاحة: https://doi.org/10.3389/fphys.2017.00039Test

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7

دورية أكاديمية

Recommendations for overcoming challenges in the diagnosis of lysosomal acid lipase deficiency

المؤلفون: Giraldo, Pilar, López de Frutos, Laura, Cebolla, Jorge J

المساهمون: FEETEG

المصدر: Expert Opinion on Orphan Drugs ; volume 10, issue 1, page 11-21 ; ISSN 2167-8707

الإتاحة: https://doi.org/10.1080/21678707.2022.2131393Test

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8

دورية أكاديمية

Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene

المؤلفون: Gervas-Arruga, Javier, Cebolla, Jorge J., Irun, Pilar, Perez-Lopez, Javier, Plaza, Luis, Roche, Jose C., Capablo, Jose L., Rodriguez-Rey, Jose C., Pocovi, Miguel, Giraldo, Pilar

المصدر: BMC Genetics ; volume 16, issue 1 ; ISSN 1471-2156

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1186/s12863-015-0267-zTest

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9

دورية أكاديمية

New variants in Spanish Niemann–Pick type c disease patients

المؤلفون: López de Frutos, Laura, Cebolla, Jorge J., Aldámiz-Echevarría, Luis, de la Vega, Ángela, Stanescu, Sinziana, Lahoz, Carlos, Irún, Pilar, Giraldo, Pilar

المصدر: Molecular Biology Reports ; volume 47, issue 3, page 2085-2095 ; ISSN 0301-4851 1573-4978

مصطلحات موضوعية: Genetics, Molecular Biology, General Medicine

الإتاحة: https://doi.org/10.1007/s11033-020-05308-7Test

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10

دورية أكاديمية

Serum protein electrophoresis pattern alterations on lipidoses patients

المؤلفون: de Frutos, Laura López, García-González, Elena, Cebolla, Jorge J., Lahoz, Carlos, García-Rodríguez, Beatriz, González-Irazabal, Yolanda, Mora-Hernández, Eva, Serrano-Gonzalo, Irene, Irún, Pilar, Giraldo, Pilar

المصدر: Molecular Genetics and Metabolism ; volume 129, issue 2, page S100-S101 ; ISSN 1096-7192

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016Test/j.ymgme.2019.11.255
https://api.elsevier.com/content/article/PII:S1096719219310996?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719219310996?httpAccept=text/plainTest

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