المؤلفون: Bravo-Alonso, I., Navarrete, R., Vega, A. I., Ruíz-Sala, P., García Silva, M. T., Martín-Hernández, E., Quijada-Fraile, P., Belanger-Quintana, A., Stanescu, S., Bueno, M., Vitoria, I., Toledo, L., Couce Pico, María Luz, García-Jiménez, I., Ramos-Ruiz, R., Martín, M., Desviat, L. R., Ugarte, M., Pérez-Cerdá, C., Merinero, B., Pérez, B., Rodríguez-Pombo, P.

مصطلحات موضوعية: CHUS, IDIS

Relation: https://res.mdpi.com/d_attachment/jcm/jcm-08-01811/article_deploy/jcm-08-01811.pdf; https://www.ncbi.nlm.nih.gov/pubmed/31683770; http://hdl.handle.net/20.500.11940/15381; 30602

الاتاحة: https://hdl.handle.net/20.500.11940/15381
https://www.ncbi.nlm.nih.gov/pubmed/31683770
https://doi.org/10.3390/jcm8111811

المؤلفون: Brasil, S., Briso-Montiano, Álvaro, Gámez Abascal, María Alejandra, Underhaug, J., Flydal, M. I., Desviat, Lourdes R., Merinero, B., Ugarte, M., Martínez, A., Pérez, B.

المساهمون: UAM. Departamento de Biología Molecular

مصطلحات موضوعية: pharmacological chaperones, MMA cblB type, ATR, MMAB, destabilizing mutations, Biología y Biomedicina / Biología

وصف الملف: application/pdf

Relation: Biochimica et Biophysica Acta - Molecular Basis of Disease; https://doi.org/10.1016/j.bbadis.2017.11.024; http://hdl.handle.net/10486/709439; 640; 648; 1864

الاتاحة: http://hdl.handle.net/10486/709439
https://doi.org/10.1016/j.bbadis.2017.11.024

المؤلفون: Richard, E., Brasil, S., Briso-Montiano, A., Alonso-Barroso, E., Gallardo, M. E., Merinero, B., Ugarte, M., Desviat, L. R., Pérez, B.

المساهمون: UAM. Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa (CBM), Instituto de Investigación Sanitaria Hospital Universitario de La Paz (IdiPAZ)

مصطلحات موضوعية: Induced pluripotent stem cell (iPSC), Fibroblast, Methylmalonic acidemia, Nucleotide of exon, Sendai virus, Biología y Biomedicina / Biología

وصف الملف: application/pdf

Relation: Stem Cell Research; https://doi.org/10.1016/j.scr.2018.03.021; Gobierno de España. PI13/01239; Stem Cell Research 29 (2018): 143–147; 1873-5061 (print); 1876-7753 (online); http://hdl.handle.net/10486/683380; 143; 29; 147

الاتاحة: http://hdl.handle.net/10486/683380
https://doi.org/10.1016/j.scr.2018.03.021

المؤلفون: Oyarzabal, A., Bravo-Alonso, I., Sánchez-Aragó, M., Rejas, M.T., Merinero, B., García-Cazorla, A., Artuch, R., Ugarte, M., Rodríguez-Pombo, P.

المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease ; volume 1862, issue 4, page 592-600 ; ISSN 0925-4439

الاتاحة: http://dx.doi.org/10.1016/j.bbadis.2016.01.016
https://api.elsevier.com/content/article/PII:S0925443916300035?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0925443916300035?httpAccept=text/plain

المؤلفون: Bravo-Alonso, I., Oyarzabal, A., Sánchez-Aragó, M., Rejas, M.T., Merinero, B., García-Cazorla, A., Artuch, R., Ugarte, M., Rodríguez-Pombo, P.

المساهمون: Fundación Ramón Areces, Spanish Ministerio de Economía y Competitividad, Centro de Diagnóstico de Enfermedades Moleculares

المصدر: Data in Brief ; volume 7, page 755-759 ; ISSN 2352-3409

الاتاحة: http://dx.doi.org/10.1016/j.dib.2016.03.038
https://api.elsevier.com/content/article/PII:S2352340916301469?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2352340916301469?httpAccept=text/plain

المؤلفون: Castro, M., Carrillo, R., García, F., Sanz, P., Ferrer, I., Ruiz-Sala, P., Vega, A. I., Ruíz Desviat, L., Pérez, B., Pérez-Cerdá, C., Merinero, B., Ugarte, M.

المصدر: Nucleosides, Nucleotides and Nucleic Acids ; volume 33, issue 4-6, page 233-240 ; ISSN 1525-7770 1532-2335

الاتاحة: http://dx.doi.org/10.1080/15257770.2013.854381
http://www.tandfonline.com/doi/pdf/10.1080/15257770.2013.854381

المؤلفون: Jorge-Finnigan, A., Brasil, S., Underhaug, J., Ruiz-Sala, P., Merinero, B., Banerjee, R., Desviat, L. R., Ugarte, M., Martinez, A., Perez, B.

المصدر: Human Molecular Genetics ; volume 22, issue 18, page 3680-3689 ; ISSN 0964-6906 1460-2083

الاتاحة: https://doi.org/10.1093/hmg/ddt217
http://academic.oup.com/hmg/article-pdf/22/18/3680/1868101/ddt217.pdf

المؤلفون: Morán, M., Rivera, H., Sánchez-Aragó, M., Blázquez, A., Merinero, B., Ugalde, C., Arenas, J., Cuezva, J.M., Martín, M.A.

المساهمون: Instituto de Salud Carlos III (ISCIII), Ministry of Science and Innovation (MICIN), Ministry of Education and Science, Comunidad de Madrid (CM), ISCIII, ISCIII-MICIN, Agencia Laín Entralgo

المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease ; volume 1802, issue 5, page 443-453 ; ISSN 0925-4439

الاتاحة: http://dx.doi.org/10.1016/j.bbadis.2010.02.001
https://api.elsevier.com/content/article/PII:S0925443910000438?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0925443910000438?httpAccept=text/plain

المؤلفون: Verdú, A., Torres, R. J., Merinero, B., Puig, J. G.

المصدر: Nucleosides, Nucleotides and Nucleic Acids ; volume 27, issue 6-7, page 575-577 ; ISSN 1525-7770 1532-2335

الاتاحة: http://dx.doi.org/10.1080/15257770802136008
http://www.tandfonline.com/doi/pdf/10.1080/15257770802136008

المؤلفون: Olsen, R. K. J., Olpin, S. E., Andresen, B. S., Miedzybrodzka, Z. H., Pourfarzam, M., Merinero, B., Frerman, F. E., Beresford, M. W., Dean, J. C. S., Cornelius, N., Andersen, O., Oldfors, A., Holme, E., Gregersen, N., Turnbull, D. M., Morris, A. A. M.

المصدر: Brain ; volume 130, issue 8, page 2045-2054 ; ISSN 0006-8950 1460-2156

الاتاحة: http://dx.doi.org/10.1093/brain/awm135
http://academic.oup.com/brain/article-pdf/130/8/2045/882597/awm135.pdf

المؤلفون: Knerr, I, Colombo, R, Urquhart, J, Morais, A, Merinero, B, Oyarzabal, A, Pérez, B, Jones, SA, Perveen, R, Preece, MA, Rogers, Y, Treacy, EP, Mayne, P, Zampino, G, Mackinnon, S, Wassmer, E, Yue, WW, Robinson, I, Rodríguez-Pombo, P, Olpin, SE, Banka, S

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8eb2bc11d6c069eba1910f7d09c03f99
https://ora.ox.ac.uk/objects/uuid:fe13ef9b-1802-4e15-8a6d-3066afbfeecd

المؤلفون: Bermúdez, M., Arteaga, C., Rojas, C., Torres, S., Merinero, B., Pérez, C.

المصدر: Acta Biológica Colombiana; Vol. 6 Núm. 2 (2001); 98 ; Acta Biológica Colombiana; Vol. 6 No. 2 (2001); 98 ; 1900-1649 ; 0120-548X

مصطلحات موضوعية: Enfermedad de la Orina, MSUD, Aciduria Metilmalónica, Neonatal, Ciencias Bilógicas, Biología, Medicina

وصف الملف: application/pdf

Relation: https://revistas.unal.edu.co/index.php/actabiol/article/view/26484/26812; https://revistas.unal.edu.co/index.php/actabiol/article/view/26484

الاتاحة: https://revistas.unal.edu.co/index.php/actabiol/article/view/26484

المؤلفون: Bermúdez, M., Bernal, J., Briceño, I., Espinosa, E., Prieto, J., Osorio, G., Jubis, G., Merinero, B., Pérez, C., Ugarte, M.

المصدر: Acta Biológica Colombiana; Vol. 6 Núm. 2 (2001); 20 ; Acta Biológica Colombiana; Vol. 6 No. 2 (2001); 20 ; 1900-1649 ; 0120-548X

مصطلحات موضوعية: Homocistinuria, Genética, Metionina, Homociste, Cistationina B Sintasa, Ciencias Bilógicas, Biología, Medicina

وصف الملف: application/pdf

Relation: https://revistas.unal.edu.co/index.php/actabiol/article/view/26148/26544; https://revistas.unal.edu.co/index.php/actabiol/article/view/26148

الاتاحة: https://revistas.unal.edu.co/index.php/actabiol/article/view/26148

المؤلفون: Pérez-Cerdá, C, Merinero, B, Rodríguez-Pombo, P, Pérez, B, Desviat, LR, Muro, S, Richard, E, García, MJ, Gangoiti, J, Sala, PRuiz, Sanz, P, Briones, P, Ribes, A, Martínez-Pardo, M, Campistol, J, Pérez, M, Lama, R, Murga, ML, Lema-Garrett, T, Verdú, A, Ugarte, M

المصدر: European Journal of Human Genetics ; volume 8, issue 3, page 187-194 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/sj.ejhg.5200442
http://www.nature.com/articles/5200442.pdf
http://www.nature.com/articles/5200442

المؤلفون: Navarrete, R., Leal, F., Vega, A. I., Morais-López, A., Garcia-Silva, M. T., Martín-Hernández, E., Quijada-Fraile, P., Bergua, A., Vives, I., García-Jiménez, I., Yahyaoui, R., Pedrón-Giner, C., Belanger-Quintana, A., Stanescu, S., Cañedo, E., García-Campos, O., Bueno-Delgado, M., Delgado-Pecellín, C., Vitoria, I., Rausell, M. D., Balmaseda, E., Couce Pico, María Luz, Desviat, L. R., Merinero, B., Rodríguez-Pombo, P., Ugarte, M., Pérez-Cerdá, C., Pérez, B.

مصطلحات موضوعية: CHUS

Relation: https://www.ncbi.nlm.nih.gov/pubmed/30626930; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460639/pdf/41431_2018_Article_330.pdf; http://hdl.handle.net/20.500.11940/15523; 30885

الاتاحة: https://hdl.handle.net/20.500.11940/15523
https://www.ncbi.nlm.nih.gov/pubmed/30626930
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460639/pdf/41431_2018_Article_330.pdf
https://doi.org/10.1038/s41431-018-0330-0

المؤلفون: Merinero, B., Alcaide, P., Martín-Hernández, E., Morais, A., García-Silva, M. T., Quijada-Fraile, P., Pedrón-Giner, C., Dulin, E., Yahyaoui, R., Egea, J. M., Belanger-Quintana, A., Blasco-Alonso, J., Fernandez Ruano, M. L., Besga, B., Ferrer-López, I., Leal, F., Ugarte, M., Ruiz-Sala, P., Pérez, B., Pérez-Cerdá, C.

المصدر: JIMD Reports ; JIMD Reports, Volume 39 ; page 63-74 ; ISSN 2192-8304 2192-8312 ; ISBN 9783662575765 9783662575772

الاتاحة: http://dx.doi.org/10.1007/8904_2017_40
http://link.springer.com/content/pdf/10.1007/8904_2017_40

المؤلفون: Merinero, B, Alcaide, P, Martín-Hernández, E, Morais, A, García-Silva, M T, Quijada-Fraile, P, Pedrón-Giner, C, Dulin, E, Yahyaoui, R, Egea, J M, Belanger-Quintana, A, Blasco-Alonso, J, Fernandez Ruano, M L, Besga, B, Ferrer-López, I, Leal, F, Ugarte, M, Ruiz-Sala, P, Pérez, B, Pérez-Cerdá, C

المصدر: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

مصطلحات موضوعية: Newborn screening, lipids (amino acids, peptides, and proteins), ACADVL mutations, Very long-chain acyl-CoA dehydrogenase deficiency, VLCAD enzyme activity

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::f53c5bbafc313860cb9c6f536c0543c7
https://hdl.handle.net/20.500.12530/39096

المؤلفون: Sala, P Ruiz, Ruijter, G, Acquaviva, C, Chabli, A, de Sain-van der Velden, M G M, Garcia-Villoria, J, Heiner-Fokkema, M R, Jeannesson-Thivisol, E, Leckstrom, K, Franzson, L, Lynes, G, Olesen, J, Onkenhout, W, Petrou, P, Drousiotou, A, Ribes, A, Vianey-Saban, C, Merinero, B

المساهمون: Morava, Eva, Baumgartner, Matthias, Patterson, Marc, Rahman, Shamima, Zschocke, Johannes, Peters, Verena

المصدر: Sala , P R , Ruijter , G , Acquaviva , C , Chabli , A , de Sain-van der Velden , M G M , Garcia-Villoria , J , Heiner-Fokkema , M R , Jeannesson-Thivisol , E , Leckstrom , K , Franzson , L , Lynes , G , Olesen , J , Onkenhout , W , Petrou , P , Drousiotou , A , Ribes , A , Vianey-Saban , C & Merinero , B 2016 , Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum . in E Morava , M Baumgartner ....

Relation: https://research.rug.nl/en/publications/2f554cf9-d3c9-4715-9ef2-16f29fdce51c; urn:ISBN:978-3-662-53680-3

الاتاحة: https://hdl.handle.net/11370/2f554cf9-d3c9-4715-9ef2-16f29fdce51c
https://research.rug.nl/en/publications/2f554cf9-d3c9-4715-9ef2-16f29fdce51c
https://doi.org/10.1007/8904_2016_533

المؤلفون: Bellusci, M., Quijada‐Fraile, P., Barrio‐Carreras, D., Martin‐Hernandez, E., Garcia‐Silva, M., Merinero, B., Perez, B., Hernandez‐Lain, A.

المصدر: Journal of Inherited Metabolic Disease ; volume 40, issue 5, page 751-752 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1007/s10545-017-0041-7
http://link.springer.com/article/10.1007/s10545-017-0041-7/fulltext.html
http://link.springer.com/content/pdf/10.1007/s10545-017-0041-7.pdf
https://onlinelibrary.wiley.com/doi/pdf/10.1007/s10545-017-0041-7

المؤلفون: Ruiz-Sala, P, Ruijter, George, Acquaviva, C, Chabli, A, de Sain-van der Velden, MGM, Garcia-Villora, J, Heiner-Fokkema, RMR, Jeannesson-Thivisol, E, Leckstrom, K, Franzson, L, Lynes, G, Oleson, J, Onkenhout, W, Petrou, P, Drousiotou, A, Ribes, A, Vianey-Saban, C, Merinero, B

المصدر: Ruiz-Sala , P , Ruijter , G , Acquaviva , C , Chabli , A , de Sain-van der Velden , MGM , Garcia-Villora , J , Heiner-Fokkema , RMR , Jeannesson-Thivisol , E , Leckstrom , K , Franzson , L , Lynes , G , Oleson , J , Onkenhout , W , Petrou , P , Drousiotou , A , Ribes , A , Vianey-Saban , C & Merinero , B 2016 , ' Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum ' , Journal of Inherited Metabolic Disease , vol. 39 ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01

الاتاحة: https://pure.eur.nl/en/publications/59d03b83-0957-40d5-8b5a-63466f3c0af3