المؤلفون: Consuelo Pedrón-Giner, Luis Aldamiz-Echevarria, María L. Couce

المصدر: Frontiers in Nutrition, Vol 11 (2024)

مصطلحات موضوعية: Inborn errors of metabolism, nutritional therapy, dietary carbohydrate, dietary lipid, dietary protein, energy requirement, Nutrition. Foods and food supply, TX341-641

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnut.2024.1523957/full; https://doaj.org/toc/2296-861X

URL الوصول: https://doaj.org/article/bfbc2e8a02dd43558cb01e1a9b57da36

المؤلفون: Vassili Valayannopoulos, Manuel Schiff, Nathalie Guffon, Yann Nadjar, Angels García-Cazorla, Mercedes Martinez-Pardo Casanova, Aline Cano, Maria L. Couce, Jaime Dalmau, Luis Peña-Quintana, Vincent Rigalleau, Guy Touati, Luis Aldamiz-Echevarria, Pascal Cathebras, Didier Eyer, Dominique Brunet, Léna Damaj, Dries Dobbelaere, Claire Gay, Sylvie Hiéronimus, Virginie Levrat, François Maillot

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Betaine anhydrous, Efficacy, Homocystinuria, RoCH registry, Safety, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1036-2; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/05d49c6bc6994b81a7acb386a29e24b7

المؤلفون: Leonor Arranz, Luis Aldamiz-Echevarria

المصدر: Molecular Genetics and Metabolism Reports, Vol 3, Iss C, Pp 88-91 (2015)

مصطلحات موضوعية: Hurler syndrome, Enzyme replacement therapy, Hematopoietic transplant, Mucopolysaccharosidosis type I, Laronidase, Anti-laronidase antibodies, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426915300070; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/bc966e2612ea4adf8d771772c5861dee

المؤلفون: Domingo González-Lamuño, Carmenmelina Morencos, Francisco J. Arrieta, Eva Venegas, Germán Vicente-Rodríguez, José Antonio Casajús, Maria Luz Couce, Luís Aldámiz-Echevarría

المصدر: Nutrients, Vol 16, Iss 5, p 639 (2024)

مصطلحات موضوعية: phenylketonuria, protein substitutes, amino acid, glycomacropetides, phenyalanine, tyrosine, Nutrition. Foods and food supply, TX341-641

Relation: https://www.mdpi.com/2072-6643/16/5/639; https://doaj.org/toc/2072-6643; https://doaj.org/article/560c92d45b974d6f92c8bc088890f39a

الاتاحة: https://doi.org/10.3390/nu16050639
https://doaj.org/article/560c92d45b974d6f92c8bc088890f39a

المؤلفون: Domingo González-Lamuño, Paula Sánchez-Pintos, Fernando Andrade, María L. Couce, Luís Aldámiz-Echevarría

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: Adherence, Diet, Nitisinone, Tyrosinemia type 1, Medicine

Relation: https://doi.org/10.1186/s13023-021-01879-1; https://doaj.org/toc/1750-1172; https://doaj.org/article/4b8e1cd98f7c4473add6b40105ef51d1

الاتاحة: https://doi.org/10.1186/s13023-021-01879-1
https://doaj.org/article/4b8e1cd98f7c4473add6b40105ef51d1

المؤلفون: Heard, Jean-Michel, Bellettato, Cinzia, van Lingen, Corine, Scarpa, Maurizio, Debray, François-Guillaume, Nassogne, Marie-C. cile, van Coster, Rudy, de Meirleir, Linda, Eyskens, François, Morava, Eva, Baric, Ivo, Kozich, Viktor, Lund, Allan Meldgaard, Germain, Dominique, Belmatoug, Nadia, Guffon, Nathalie, Labrune, Philippe, Gouya, Laurent, de Lonlay, Pascale, Schiff, Manuel, Dobbelaere, Dries, Chabrol, Brigitte, Das, Anihb Martin, Spiekerkoetter, Ute, Rutsch, Frank, Ploeckinger, Ursula, Mohnike, Klaus, Hahn, Andreas, Kölker, Stefan, Ullrich, Kurt, Balogh, István, Bembi, Bruno, Donati, Maria Alice, Gasperini, Serena, Parenti, Giancarlo, Salviati, Alessandro, Vici, Carlo-Dionisi, di Rocco, Maja, Cefalo, Graziella, Burlina, Alberto, Ceccarini, Giovanni, Federico, Antonio, van der Ploeg, Ans, Rubio-Gozalbo, Maria-Estela, van Spronsen, Francian, Visser, Gepke, Bosch, Annet, Tangeraas, Trine, Sanderberg, Sverre, Kieć-Wilk, Beata, Gaspar, Ana-Maria Simões Mendes, Martins, Esmeralda, Silva, Esmeralda-Maria Ferreira Rodrigues, de Abreu Freire Diogo Matos, Luísa-Maria, Azevedo, Olga, Tansek, Mojca-Zerjav, Couce-Pico, Maria-Luz, Cazorla, Angeles Garcia, Azuara, Luis Aldámiz-Echevarría, del Toro-Riera, Mireia, Lajic, Svetlana, Darin, Niklas, Deegan, Patrick, Vijaym, Suresh, Chronopoulou, Efstathia, Jones, Simon, Chakrapani, Anupanm, Hiwot, Tarekegn

المصدر: Heard , J-M , Bellettato , C , van Lingen , C , Scarpa , M , Debray , F-G , Nassogne , M-C C , van Coster , R , de Meirleir , L , Eyskens , F , Morava , E , Baric , I , Kozich , V , Lund , A M , Germain , D , Belmatoug , N , Guffon , N , Labrune , P , Gouya , L , de Lonlay , P , Schiff , M , Dobbelaere , D , Chabrol , B , Das , A M , ....

الاتاحة: https://research.vumc.nl/en/publications/d09f6c3e-0b05-4368-b399-0d0df589fe5c
https://doi.org/10.1186/s13023-019-1091-8
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85066922947&origin=inward
https://www.ncbi.nlm.nih.gov/pubmed/31142374

المؤلفون: María L. Couce, Paula Sánchez-Pintos, Isidro Vitoria, María-José De Castro, Luís Aldámiz-Echevarría, Patricia Correcher, Ana Fernández-Marmiesse, Iria Roca, Alvaro Hermida, Miguel Martínez-Olmos, Rosaura Leis

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)

مصطلحات موضوعية: HOMA index, Insulin, Nutrition, Phenylalanine, Tetrahydrobiopterin, Medicine

Relation: http://link.springer.com/article/10.1186/s13023-018-0847-x; https://doaj.org/toc/1750-1172; https://doaj.org/article/8439bab5ceba4662af2233ded70cd93e

الاتاحة: https://doi.org/10.1186/s13023-018-0847-x
https://doaj.org/article/8439bab5ceba4662af2233ded70cd93e

المؤلفون: Vanesa Crujeiras, Luís Aldámiz-Echevarría, Jaume Dalmau, Isidro Vitoria, Fernando Andrade, Iria Roca, Rosaura Leis, Ana Fermandez-Marmiesse, María L. Couce

المصدر: Data in Brief, Vol 4, Iss C, Pp 614-621 (2015)

مصطلحات موضوعية: Computer applications to medicine. Medical informatics, R858-859.7, Science (General), Q1-390

Relation: http://www.sciencedirect.com/science/article/pii/S2352340915001456; https://doaj.org/toc/2352-3409; https://doaj.org/article/a79105e3e0104a45975240940dbcda83

الاتاحة: https://doi.org/10.1016/j.dib.2015.07.026
https://doaj.org/article/a79105e3e0104a45975240940dbcda83

المؤلفون: Luis Aldámiz-Echevarría, Fernando Andrade

المصدر: International Journal of Molecular Sciences; Volume 13; Issue 9; Pages: 11288-11311

مصطلحات موضوعية: asymmetric dimethylarginine (ADMA), arginine (Arg), children, dimethylarginine dimethylaminohydrolase (DDAH), endothelial dysfunction, kidney, methylarginines, nitric oxide, oxidative stress, renal failure

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Biochemistry; https://dx.doi.org/10.3390/ijms130911288

الاتاحة: https://doi.org/10.3390/ijms130911288

المؤلفون: Crespo, Pablo Sanjurjo, Prieto Perera, Jose Angel, Lodeiro, Fernando Andrade, Azuara, Luis Aldámiz-Echevarría

المصدر: Public Health Nutrition ; volume 10, issue 10A, page 1121-1125 ; ISSN 1368-9800 1475-2727

الاتاحة: http://dx.doi.org/10.1017/s1368980007000596
https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S1368980007000596

المؤلفون: Heard, Jean-Michel, Vrinten, Charlotte, Schlander, Michael, Bellettato, Cinzia Maria, van Lingen, Corine, Scarpa, Maurizio, Gert Matthijs, Marie-Cécile Nassogne, François-Guillaume Debray, Dominique Roland, Teodora Chamova, Viktor Kozich, Jesina Pavel, Martin Zenker, Christina Lampe, Anihb Martin Das, Julia Hennermann, Stefan Kölker, Natalie Weinhold, Klaus Mohnike, Sarah Gruenert, Allan Meldgaard Lund, Montserrat Morales-Conejo, Mireia Del Toro-Riera, Luis Aldámiz-Echevarría, Maria-Teresa Garcia-Silva, Manuel Schiff, Laurent Gouya, Pascale de Lonlay, Nadia Belmatoug, Dominique P Germain, Aline Cano, Dries Dobbelaere, Simon Jones, Charlotte Dawson, Patrick Deegan, Saikat Santra, Suresh Vijay, Danijela Petkovic Ramadza, Ivo Barić, Tamara Žigman, György Pflieger, Katalin Szakszon, Rita Kaposta, Serena Gasperini, Alberto Burlina, Giancarlo Parenti, Pietro Strisciuglio, Giovanni Ceccarini, Antonio Federico, Alessandro Simonati, Birute Tumiene, Hidde Huidekoper, Francian van Spronsen, Annet Bosch, Maria-Estela Rubio-Gozalbo, Gepke Visser, Trine Tangeraas, Aasne Aarsand, Beata Kieć-Wilk, Ana-Maria Simões Mendes Gaspar, Dulce Quelhas, Elisa Leao-Teles, Olga Azevedo, Esmeralda-Maria Ferreira Rodriges Silva, Luísa-Maria de Abreu Freire Diogo Matos, Esmeralda Martins, Svetlana Lajic, Niklas Darin, Urh Groselj, Mojca-Zerjav Tansek

المساهمون: Jean-Michel, Heard, Charlotte, Vrinten, Michael, Schlander, Cinzia Maria, Bellettato, Corine, van Lingen, Maurizio, Scarpa, Matthijs, Gert, Nassogne, Marie-Cécile, Debray, François-Guillaume, Roland, Dominique, Chamova, Teodora, Kozich, Viktor, Pavel, Jesina, Zenker, Martin, Lampe, Christina, Martin Das, Anihb, Hennermann, Julia, Kölker, Stefan, Weinhold, Natalie, Mohnike, Klau, Gruenert, Sarah, Meldgaard Lund, Allan, Morales-Conejo, Montserrat, Del Toro-Riera, Mireia, Aldámiz-Echevarría, Lui, Garcia-Silva, Maria-Teresa, Schiff, Manuel, Gouya, Laurent, de Lonlay, Pascale, Belmatoug, Nadia, P Germain, Dominique, Cano, Aline, Dobbelaere, Drie, Jones, Simon, Dawson, Charlotte, Deegan, Patrick, Santra, Saikat, Vijay, Suresh, Petkovic Ramadza, Danijela, Barić, Ivo, Žigman, Tamara, Pflieger, György, Szakszon, Katalin, Kaposta, Rita, Gasperini, Serena, Burlina, Alberto, Parenti, Giancarlo, Strisciuglio, Pietro, Ceccarini, Giovanni, Federico, Antonio, Simonati, Alessandro, Tumiene, Birute, Huidekoper, Hidde, van Spronsen, Francian, Bosch, Annet, Rubio-Gozalbo, Maria-Estela, Visser, Gepke, Tangeraas, Trine, Aarsand, Aasne, Kieć-Wilk, Beata, Simões Mendes Gaspar, Ana-Maria, Quelhas, Dulce, Leao-Teles, Elisa, Azevedo, Olga, Ferreira Rodriges Silva, Esmeralda-Maria, de Abreu Freire Diogo Matos, Luísa-Maria, Martins, Esmeralda, Lajic, Svetlana, Darin, Nikla, Groselj, Urh, Tansek, Mojca-Zerjav

مصطلحات موضوعية: Access to treatment, European Reference Network, Hereditary Metabolic Diseases, Inborn errors of metabolism, Orphan medicinal product

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/31907071; info:eu-repo/semantics/altIdentifier/wos/WOS:000513719400001; volume:15; issue:3; firstpage:1; lastpage:10; numberofpages:10; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11562/1031329; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85077535952; https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1280-5; https://doi.org/10.1186/s13023-019-1280-5

الاتاحة: http://hdl.handle.net/11562/1031329
https://doi.org/10.1186/s13023-019-1280-5
https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1280-5

المؤلفون: Juan Manuel Pikatza, Ander Iruetaguena, Javier López-Cuadrado, David Buenestado, Luis Aldamiz-Echevarria, Unai Segundo, Raúl Barrena, Tomás A. Pérez

المصدر: Applied Soft Computing. 26:257-269

مصطلحات موضوعية: Interpretation (logic), Computer science, business.industry, Process (engineering), media_common.quotation_subject, Separation of concerns, Guideline, Machine learning, computer.software_genre, Adaptability, Domain (software engineering), Subject-matter expert, Sustainability, Artificial intelligence, Medical diagnosis, business, computer, Software, Natural language, media_common

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6250e3e0e46b3666dc94a725a039c0c4
https://doi.org/10.1016/j.asoc.2014.09.045

المؤلفون: López-Marín, Laura, Gutiérrez-Solana, Luis G., Azuara, Luis Aldamiz-Echevarria, de las Heras, Rogelio Simón, Rodríguez, Anna Duat, Extremera, Verónica Cantarín

المصدر: JIMD Reports ; JIMD Reports - Volume 10 ; page 61-68 ; ISSN 2192-8304 2192-8312 ; ISBN 9783642373336 9783642373343

الاتاحة: http://dx.doi.org/10.1007/8904_2012_204
http://link.springer.com/content/pdf/10.1007/8904_2012_204

المؤلفون: Lourdes Perteagudo, Jose Ignacio Ruiz, Pablo Sanjurjo, Roberto Matorras, Yolanda Echevarría, Arantza López De Larrucea, A. Nieto, Jose Luis Aldamiz-Echevarria

المصدر: Acta Obstetricia et Gynecologica Scandinavica. 80:807-812

مصطلحات موضوعية: chemistry.chemical_classification, education.field_of_study, medicine.medical_specialty, Fetus, business.industry, Population, Phospholipid, Obstetrics and Gynecology, Fatty acid, Umbilical artery, General Medicine, chemistry.chemical_compound, medicine.anatomical_structure, Endocrinology, chemistry, Internal medicine, medicine.artery, Placenta, medicine, Arachidonic acid, education, business, Polyunsaturated fatty acid

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4dfe2a4ce97cf0464c1a5e74f7230a26
https://doi.org/10.1034/j.1600-0412.2001.080009807.x

المؤلفون: Luis González Gutiérrez-Solana, Anna Duat Rodríguez, Luis Aldamiz-Echevarria Azuara, Verónica Cantarín Extremera, Rogelio Simón de las Heras, López-Marín L

المصدر: JIMD Reports ISBN: 9783642373336

مصطلحات موضوعية: Newborn screening, Pediatrics, medicine.medical_specialty, business.industry, Urinary system, Mucopolysaccharidosis, Hunter syndrome, Enzyme replacement therapy, Disease, medicine.disease, Article, Osteogenesis imperfecta, medicine, Mucopolysaccharidosis type II, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94bc494557d35a481ecdda297a58e073
https://pubmed.ncbi.nlm.nih.gov/23430804

المؤلفون: Ander Iruetaguena, Pablo Sanjurjo, David Buenestado, Raúl Barrena, Juan José Valera García, Luis Aldamiz-Echevarria, Javier Elorz, Juan Manuel Pikatza, Unai Segundo

المصدر: Advances in Intelligent and Soft Computing ISBN: 9783642148828
DCAI

مصطلحات موضوعية: Knowledge management, business.industry, Computer science, Knowledge translation, Best practice, Medical evidence, Model-driven software development, business, Clinical decision support system

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::db0922055ba8c4ddcf354525cd2dca8e
https://doi.org/10.1007/978-3-642-14883-5_53

المؤلفون: Elena Vecino, Luis Aldamiz-Echevarria, Ricardo Martínez-Fernández, Sergio Pinar-Sueiro, Sergio Lage-Medina

المصدر: Journal of inherited metabolic disease. 33

مصطلحات موضوعية: medicine.medical_specialty, Visual acuity, Time Factors, genetic structures, Adolescent, Ubiquinone, medicine.medical_treatment, DNA Mutational Analysis, Methylmalonic acidemia, Visual Acuity, Audiology, Gastroenterology, Neuroprotection, Antioxidants, Optic neuropathy, chemistry.chemical_compound, Pharmacotherapy, Internal medicine, Optic Nerve Diseases, Genetics, Diet, Protein-Restricted, Medicine, Humans, Vitamin E, Amino Acid Metabolism, Inborn Errors, Genetics (clinical), Cells, Cultured, Coenzyme Q10, business.industry, Neurotoxicity, Recovery of Function, medicine.disease, eye diseases, Neuroprotective Agents, Treatment Outcome, chemistry, Dietary Supplements, Drug Therapy, Combination, Female, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::013e62f638901a8fb4dbcff7dee5b275
https://pubmed.ncbi.nlm.nih.gov/20449661

المؤلفون: Miguel Rueda, Gustavo Pérez-Nanclares, Pilar Gimeno, Lourdes Aquino, Roser Urreizti, Pablo Sanjurjo, Alfredo Vallo, Juan Rodríguez-Soriano, Luis Aldamiz-Echevarria, Ignacio Ruiz

المصدر: Pediatric nephrology (Berlin, Germany). 17(9)

مصطلحات موضوعية: Blood Glucose, Male, Hyperhomocysteinemia, medicine.medical_specialty, Apolipoprotein B, Adolescent, Genotype, Population, Renal function, Folic Acid, Internal medicine, medicine, Humans, Vitamin B12, education, Child, Homocysteine, Methylenetetrahydrofolate Reductase (NADPH2), education.field_of_study, Oxidoreductases Acting on CH-NH Group Donors, biology, medicine.diagnostic_test, business.industry, medicine.disease, Kidney Transplantation, Lipids, Transplantation, Vitamin B 12, Endocrinology, Nephrology, Methylenetetrahydrofolate reductase, Pediatrics, Perinatology and Child Health, biology.protein, Regression Analysis, Female, Lipid profile, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::591f8de6e018864a059ef3f4d7cdcb9e
https://pubmed.ncbi.nlm.nih.gov/12215824

المؤلفون: López-Marín, Laura, Gutiérrez-Solana, Luis G., Azuara, Luis Aldamiz-Echevarria, de las Heras, Rogelio Simón, Rodríguez, Anna Duat, Extremera, Verónica Cantarín

المصدر: JIMD Reports - Volume 10; 2013, p61-68, 8p

المؤلفون: Pedro Larrañaga, Eduardo G. Pérez-Yarza, Luis Aldamiz-echevarria, José Ignacio Emparanza, Irene Ozcoidi, Maite Labiano, Jose L. Jiminez

المصدر: Scopus-Elsevier
Critical Care Medicine, ISSN 0090-3493, 1988-02, Vol. 16, No. 2

مصطلحات موضوعية: Male, medicine.medical_specialty, Matemáticas, Medicina, Meningitis, Meningococcal, Critical Care and Intensive Care Medicine, Meningococcal disease, Prognostic score, Predictive Value of Tests, Internal medicine, medicine, Humans, Child, Informática, Coma, Blood Cells, business.industry, Infant, Prognosis, medicine.disease, Linear discriminant analysis, Predictive value, Surgery, El Niño, Child, Preschool, Female, Base excess, Acute meningococcemia, medicine.symptom, business, Blood Chemical Analysis

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::269f2096f6d076e5a2a48761234084fb
http://www.scopus.com/inward/record.url?eid=2-s2.0-0023942778&partnerID=MN8TOARS