المؤلفون: García Villoria, Judit

المساهمون: University/Department: Universitat de Barcelona. Facultat de Biologia

مرشدي الرسالة: Ribes Rubió, Maria Antònia

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Malaltia d'Alzheimer, Enfermedad de Alzheimer, Alzheimer's disease, Mitocondris, Mitocondrias, Mitochondria, Errors congènits del metabolisme, Enfermedades hereditarias metabólicas, Inborn errors of metabolism, Ciències Experimentals i Matemàtiques

الوقت: 616.8

وصف الملف: application/pdf

الوصول الحر: http://hdl.handle.net/10803/398985Test

المؤلفون: Mateu Bosch, Anna, Segur-Bailach, Eulalia, García Villoria, Judit, Gea Sorli, Sabrina, Ruiz, I., Rey Calero, Juan del, Camps, Jordi, Guitart Mampel, Mariona, Garrabou Tornos, Glòria, Tort, Frederic, Ribes, A., Fillat i Fonts, Cristina

المصدر: Articles publicats en revistes (Medicina)

مصطلحات موضوعية: Teràpia genètica, Malalties cerebrals, Proteïnes, Gene therapy, Brain diseases, Proteins

وصف الملف: 29 p.; application/pdf

العلاقة: Versió postprint del document publicat a: https://doi.org/10.1038/s41434-023-00428-8Test; Gene Therapy, 2024, vol. 31, num.1, p. 12-18; https://doi.org/10.1038/s41434-023-00428-8Test; http://hdl.handle.net/2445/213466Test; 744309; 9380568

الإتاحة: https://doi.org/10.1038/s41434-023-00428-8Test
http://hdl.handle.net/2445/213466Test

المؤلفون: Morales-Romero, Blai, González de Aledo-Castillo, José Manuel, Fernández Sierra, Cristina, Martínez Carreira, Carmen, Zaragoza Bonet, Carles, Fernández Bonifacio, Rosa, Caro Miró, Maria Antònia, Argudo-Ramírez, Ana, López Galera, Rosa María, García-Villoria, Judit

المساهمون: AGAUR, CIBER

المصدر: Journal of Lipid Research ; volume 65, issue 3, page 100516 ; ISSN 0022-2275

مصطلحات موضوعية: Cell Biology, Endocrinology, Biochemistry

الإتاحة: https://doi.org/10.1016/j.jlr.2024.100516Test
https://api.elsevier.com/content/article/PII:S002222752400021X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S002222752400021X?httpAccept=text/plainTest

المؤلفون: Pajares, Sonia, Arranz, Jose Antonio, Ormazabal, Aida, Toro, Mireia Del, García-Cazorla, Ángeles, Navarro-Sastre, Aleix, López, Rosa María, Meavilla, Silvia María, de los Santos, Mariela Mercedes, García-Volpe, Camila, de Aledo-Castillo, Jose Manuel González, Argudo, Ana, Marín, Jose Luís, Carnicer, Clara, Artuch, Rafael, Tort, Frederic, Gort, Laura, Fernández, Rosa, García-Villoria, Judit, Ribes, Antonia

المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172

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

الإتاحة: https://doi.org/10.1186/s13023-023-02793-4Test

المؤلفون: Pardo, Jèssica, Capdevila-Lacasa, Clara, Segura, Bàrbara, Pané, Adriana, Montserrat, Cristina, de Talló Forga-Visa, Maria, Moreno, Pedro J., Garrabou, Glòria, Grau-Junyent, Josep M., Junqué, Carme, Argudo-Ramírez, Ana, Barrau-Martínez, Blanca, Cantó, Judith, Campistol, Jaume, Cardellach, Francesc, Casals-Pascual, Climent, Chiva-Blanch, Gemma, García-Arenas, Dolores, García-García, Francesc Josep, García-Villoria, Judit

المصدر: Journal of Neurodevelopmental Disorders; 6/21/2024, Vol. 16 Issue 1, p1-10, 10p

مصطلحات موضوعية: VOXEL-based morphometry, PHENYLKETONURIA, PHENYLALANINE, MAGNETIC resonance imaging, ADULTS, NEUROPSYCHOLOGICAL tests

المؤلفون: Morales-Romero, Blai, Muñoz-Pujol, Gerard, Artuch, Rafael, García-Cazorla, Angels, O'Callaghan, Mar, Sykut-Cegielska, Jolanta, Campistol, Jaume, Moreno-Lozano, Pedro Juan, Oud, Machteld M, Wevers, Ron A, Lefeber, Dirk J, Esteve-Codina, Anna, Yepez, Vicente A, Gagneur, Julien, Wortmann, Saskia B, Prokisch, Holger, Ribes, Antonia, García-Villoria, Judit, Tort, Frederic

المصدر: Mol Genet Metab ; ISSN:1096-7206 ; Volume:142 ; Issue:3

مصطلحات موضوعية: ATP6AP1-CDG, Congenital disorders of glycosylation, Intronic variant, RNA-seq, Whole exome sequencing, Whole genome sequencing

العلاقة: https://doi.org/10.1016/j.ymgme.2024.108511Test; https://pubmed.ncbi.nlm.nih.gov/38878498Test

الإتاحة: https://doi.org/10.1016/j.ymgme.2024.108511Test
https://pubmed.ncbi.nlm.nih.gov/38878498Test

المؤلفون: Oliva, Clara, Arias, Angela, Ruiz-Sala, Pedro, Garcia-Villoria, Judit, Carling, Rachel, Bierau, Jörgen, Ruijter, George J G, Casado, Mercedes, Ormazabal, Aida, Artuch, Rafael

المصدر: Oliva , C , Arias , A , Ruiz-Sala , P , Garcia-Villoria , J , Carling , R , Bierau , J , Ruijter , G J G , Casado , M , Ormazabal , A & Artuch , R 2024 , ' Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism : validation through ERNDIM external quality assessment schemes ' , Clinical Chemistry and Laboratory Medicine . https://doi.org/10.1515/cclm-2023-1291Test

مصطلحات موضوعية: UPLC, external quality assessment, inborn errors of metabolism, tandem mass spectrometry, targeted metabolomics

العلاقة: https://cris.maastrichtuniversity.nl/en/publications/53c8b34a-4d4f-4bc4-9ba6-a38aa9ba8a1cTest

الإتاحة: https://doi.org/10.1515/cclm-2023-1291Test
https://cris.maastrichtuniversity.nl/en/publications/53c8b34a-4d4f-4bc4-9ba6-a38aa9ba8a1cTest

المؤلفون: Pajares-García, Sonia, González de Aledo-Castillo, José Manuel, Flores-Jiménez, José Eduardo, Collado, Tatiana, Pérez, Judit, Paredes-Fuentes, Abraham José, Argudo-Ramírez, Ana, López-Galera, Rosa María, Prats, Blanca, García-Villoria, Judit

المصدر: Clinical Chemistry & Laboratory Medicine; Feb2024, Vol. 62 Issue 3, p493-505, 13p

مصطلحات موضوعية: DRIED blood spot testing, LIQUID chromatography-mass spectrometry, NEWBORN screening, VITAMIN B12 deficiency, TANDEM mass spectrometry, OXIMETRY, AUDIOMETRY, VITAMIN B12

مصطلحات جغرافية: CATALONIA (Spain)

المؤلفون: Paredes-Fuentes, Abraham J., Oliva, Clara, Montero, Raquel, Alcaide, Patricia, Ruijter, George J.G., García-Villoria, Judit, Ruiz-Sala, Pedro, Artuch, Rafael

المصدر: Paredes-Fuentes , A J , Oliva , C , Montero , R , Alcaide , P , Ruijter , G J G , García-Villoria , J , Ruiz-Sala , P & Artuch , R 2022 , ' Technical Aspects of Coenzyme Q 10 Analysis : Validation of a New HPLC-ED Method ' , Antioxidants , vol. 11 , no. 3 , 528 . https://doi.org/10.3390/antiox11030528Test

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/89034593-26a3-4967-8b95-2fce23189202Test

الإتاحة: https://doi.org/10.3390/antiox11030528Test
https://pure.eur.nl/en/publications/89034593-26a3-4967-8b95-2fce23189202Test
https://pure.eur.nl/ws/files/89774933/Technical_Aspects_of_Coenzyme_Q10_Analysis.pdfTest
http://www.scopus.com/inward/record.url?scp=85126029910&partnerID=8YFLogxKTest

المؤلفون: Muñoz-Pujol, Gerard, Alforja, Socorro, Casaroli Marano, Ricardo Pedro, Morales Romero, Blai, García Villoria, Judit, Yépez, Vicente A, Gagneur, Julien, Gusic, Mirjana, Prokisch, Holger, Tort, Frederic, Ribes Rubió, Maria Antònia

المصدر: Articles publicats en revistes (Cirurgia i Especialitats Medicoquirúrgiques)

مصطلحات موضوعية: Malalties hereditàries, Peroxisomes, Edema, Oftalmologia, Trastorns auditius, Trastorns del metabolisme, Errors congènits del metabolisme, Genetic diseases, Ophthalmology, Hearing disorders, Disorders of metabolism, Inborn errors of metabolism

وصف الملف: 13 p.; application/pdf

العلاقة: Reproducció del document publicat a: https://doi.org/10.3390/ijms232012367Test; International Journal of Molecular Sciences, 2022, vol. 23, num. 20, p. 12367; https://doi.org/10.3390/ijms232012367Test; http://hdl.handle.net/2445/194589Test; 731904

الإتاحة: https://doi.org/10.3390/ijms232012367Test
http://hdl.handle.net/2445/194589Test