المؤلفون: Álvaro Martín-Rivada, Mercedes Murray Hurtado, Elena Martín-Hernández

المصدر: Frontiers in Nutrition, Vol 11 (2024)

مصطلحات موضوعية: urea cycle disorders, ornithine transacarbamylase deficiency, hyperammonemia, glycerol phenylbutyrate, inborn errors metabolism, Nutrition. Foods and food supply, TX341-641

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnut.2024.1416466/full; https://doaj.org/toc/2296-861X

URL الوصول: https://doaj.org/article/30bdbda0d506472f9e9a7a91e5fcffb7

المؤلفون: Álvaro Martín‐Rivada, Laura Palomino Pérez, Pedro Ruiz‐Sala, Rosa Navarrete, Ana Cambra Conejero, Pilar Quijada Fraile, Ana Moráis López, Amaya Belanger‐Quintana, Elena Martín‐Hernández, Marcello Bellusci, Elvira Cañedo Villaroya, Silvia Chumillas Calzada, María Teresa García Silva, Ana Bergua Martínez, Sinziana Stanescu, Mercedes Martínez‐Pardo Casanova, Miguel L. F. Ruano, Magdalena Ugarte, Belén Pérez, Consuelo Pedrón‐Giner

المصدر: JIMD Reports, Vol 63, Iss 2, Pp 146-161 (2022)

مصطلحات موضوعية: inborn error of metabolism, neonatal screening, tandem mass spectrometry, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/1b8b5ea5967a4cc4a9736f613e6e8269

المؤلفون: Pilar Quijada-Fraile, Elena Arranz Canales, Elena Martín-Hernández, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro, Guillem Pintos-Morell, Marc Moltó-Abad, David Moreno-Martínez, Salvador García Morillo, Javier Blasco-Alonso, María Luz Couce, Ricardo Gil Sánchez, Elisenda Cortès-Saladelafont, Mónica A. López Rodríguez, María Teresa García-Silva, Montserrat Morales Conejo

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

مصطلحات موضوعية: Elosulfase alfa, Health-related quality of life, Mobility, Morquio A syndrome, Mucopolysaccharidosis IVA, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/45d102193e154f53a8b2f74d26c527a5

المؤلفون: Hugh J. McMillan, Aida Telegrafi, Amanda Singleton, Megan T. Cho, Daniel Lelli, Francis C. Lynn, Julie Griffin, Alexander Asamoah, Tuula Rinne, Corrie E. Erasmus, David A. Koolen, Charlotte A. Haaxma, Boris Keren, Diane Doummar, Cyril Mignot, Islay Thompson, Lea Velsher, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Reza Maroofian, Michel Tchan, Cas Simons, John Christodoulou, Elena Martín-Hernández, Maria J. Guillen Sacoto, Lindsay B. Henderson, Heather McLaughlin, Laurie L. Molday, Robert S. Molday, Grace Yoon

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

مصطلحات موضوعية: ATP8A2, Phospholipid transfer protein, Optic atrophy, Chorea, Choreoathetosis, Dystonia, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-018-0825-3; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/fe013e7e4ed249f6a19b18adfd360c6a

المؤلفون: Alejandro Soriano-Sexto, Diana Gallego, Fátima Leal, Natalia Castejón-Fernández, Rosa Navarrete, Patricia Alcaide, María L. Couce, Elena Martín-Hernández, Pilar Quijada-Fraile, Luis Peña-Quintana, Raquel Yahyaoui, Patricia Correcher, Magdalena Ugarte, Pilar Rodríguez-Pombo, Belén Pérez

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 21; Pages: 12850

مصطلحات موضوعية: allelic expression imbalance, differential gene expression, inherited metabolic disorders, multi-omics, targeted transcriptomics

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms232112850

الاتاحة: https://doi.org/10.3390/ijms232112850

المؤلفون: Elena Martín-Hernández, Pilar Quijada-Fraile, Patricia Correcher, Silvia Meavilla, Paula Sánchez-Pintos, Javier de las Heras Montero, Javier Blasco-Alonso, Lucy Dougherty, Ana Marquez, Luis Peña-Quintana, Elvira Cañedo, María Concepción García-Jimenez, Pedro Juan Moreno Lozano, Mercedes Murray Hurtado, María Camprodon Gómez, Delia Barrio-Carreras, Mariela de los Santos, Mireia del Toro, María L. Couce, Isidro Vitoria Miñana, Montserrat Morales Conejo, Marcello Bellusci

المصدر: Journal of Clinical Medicine; Volume 11; Issue 17; Pages: 5045

مصطلحات موضوعية: clinical practice, glycerol phenylbutyrate (GPB), sodium benzoate (NaBZ), sodium phenylbutyrate (NaPB), urea cycle disorders (UCDs)

وصف الملف: application/pdf

Relation: Endocrinology & Metabolism; https://dx.doi.org/10.3390/jcm11175045

الاتاحة: https://doi.org/10.3390/jcm11175045

المؤلفون: Amaya Bélanger-Quintana, Francisco Arrieta Blanco, Delia Barrio-Carreras, Ana Bergua Martínez, Elvira Cañedo Villarroya, María Teresa García-Silva, Rosa Lama More, Elena Martín-Hernández, Ana Moráis López, Montserrat Morales-Conejo, Consuelo Pedrón-Giner, Pilar Quijada-Fraile, Sinziana Stanescu, Mercedes Martínez-Pardo Casanova

المصدر: Nutrients; Volume 14; Issue 13; Pages: 2755

مصطلحات موضوعية: ammonia, hyperammonaemia, diagnosis, therapeutics, urea cycle disorders, haemodialysis

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Nutrition and Metabolism; https://dx.doi.org/10.3390/nu14132755

الاتاحة: https://doi.org/10.3390/nu14132755

المؤلفون: Patricia Alcaide, Isaac Ferrer-López, Leticia Gutierrez, Fatima Leal, Elena Martín-Hernández, Pilar Quijada-Fraile, Marcello Bellusci, Ana Moráis, Consuelo Pedrón-Giner, Dolores Rausell, Patricia Correcher, María Unceta, Sinziana Stanescu, Magdalena Ugarte, Pedro Ruiz-Sala, Belén Pérez

المصدر: Journal of Clinical Medicine; Volume 11; Issue 10; Pages: 2933

مصطلحات موضوعية: acylcarnitines, lymphocyte enzyme activity, medium-chain acyl-CoA dehydrogenase, newborn screening, fatty acid oxidation

وصف الملف: application/pdf

Relation: Endocrinology & Metabolism; https://dx.doi.org/10.3390/jcm11102933

الاتاحة: https://doi.org/10.3390/jcm11102933

المؤلفون: Dolores Canales-Siguero, Carmen García-Muñoz, Pilar Quijada Fraile, Montserrat Morales Conejo, José Miguel Ferrari-Piquero, Elena Martín-Hernández

المصدر: Medicina Clínica (English Edition). 159:380-384

مصطلحات موضوعية: General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7d4cec99328f526eb7513ac7839e2c10
https://doi.org/10.1016/j.medcle.2022.09.002

المؤلفون: Dolores Canales-Siguero, Carmen García-Muñoz, Pilar Quijada Fraile, Montserrat Morales Conejo, José Miguel Ferrari-Piquero, Elena Martín-Hernández

المصدر: Medicina Clínica. 159:380-384

مصطلحات موضوعية: General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1f466ed7600c5b13b19189b81fffe7e9
https://doi.org/10.1016/j.medcli.2022.02.006

المؤلفون: Álvaro Martín-Rivada, Ana Cambra Conejero, Elena Martín-Hernández, Ana Moráis López, Amaya Bélanger-Quintana, Elvira Cañedo Villarroya, Pilar Quijada-Fraile, Marcelo Bellusci, Silvia Chumillas Calzada, Ana Bergua Martínez, Sinziana Stanescu, Mercedes Martínez-Pardo Casanova, Pedro Ruíz-Sala, Magdalena Ugarte, Belén Pérez González, Consuelo Pedrón-Giner

المصدر: Journal of Pediatric Endocrinology and Metabolism. 35:1223-1231

مصطلحات موضوعية: Vitamin B 12, Neonatal Screening, Propionic Acidemia, Endocrinology, Tandem Mass Spectrometry, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health, Infant, Newborn, Humans, Vitamin B 12 Deficiency, Amino Acids, Child, Amino Acid Metabolism, Inborn Errors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c813eccf4085cc1a50dcfde774044062
https://doi.org/10.1515/jpem-2022-0340

المؤلفون: Irene Bravo-Alonso, Rosa Navarrete, Ana Isabel Vega, Pedro Ruíz-Sala, María Teresa García Silva, Elena Martín-Hernández, Pilar Quijada-Fraile, Amaya Belanger-Quintana, Sinziana Stanescu, María Bueno, Isidro Vitoria, Laura Toledo, María Luz Couce, Inmaculada García-Jiménez, Ricardo Ramos-Ruiz, Miguel Ángel Martín, Lourdes R. Desviat, Magdalena Ugarte, Celia Pérez-Cerdá, Begoña Merinero, Belén Pérez, Pilar Rodríguez-Pombo

المصدر: Journal of Clinical Medicine; Volume 8; Issue 11; Pages: 1811

مصطلحات موضوعية: congenital lactic acidosis, mitochondrial dysfunction, metabolomics datasets, clinical-exome sequencing, RNA analysis, antisense therapy for mitochondrial disorders, healthcare, mitochondrial morphology

وصف الملف: application/pdf

Relation: Immunology; https://dx.doi.org/10.3390/jcm8111811

الاتاحة: https://doi.org/10.3390/jcm8111811

المؤلفون: Sandra Brasil, Fátima Leal, Ana Vega, Rosa Navarrete, María Jesús Ecay, Lourdes R. Desviat, Casandra Riera, Natàlia Padilla, Xavier de la Cruz, Mari Luz Couce, Elena Martin-Hernández, Ana Morais, Consuelo Pedrón, Luis Peña-Quintana, Miriam Rigoldi, Norma Specola, Isabel Tavares de Almeida, Inmaculada Vives, Raquel Yahyaoui, Pilar Rodríguez-Pombo, Magdalena Ugarte, Celia Pérez-Cerda, Begoña Merinero, Belén Pérez

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-12 (2018)

مصطلحات موضوعية: Cobalamin disorders, Methylmalonic aciduria, Homocystinuria, Massive parallel sequencing, Medicine

Relation: http://link.springer.com/article/10.1186/s13023-018-0862-y; https://doaj.org/toc/1750-1172; https://doaj.org/article/1e43991c7efe4b65b577dbeda655da5f

الاتاحة: https://doi.org/10.1186/s13023-018-0862-y
https://doaj.org/article/1e43991c7efe4b65b577dbeda655da5f

المؤلفون: Elena Martín-Hernández, Enrique Medina-Benítez, Cristina Durán-Aparicio, María Elena Rodríguez-García, Francisco Martínez-Azorín, Abraham Merino-López, Francisco Javier Cotrina-Vinagre

المصدر: Molecular Genetics and Metabolism. 133:201-210

مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, medicine.medical_specialty, Fever, Endocrinology, Diabetes and Metabolism, Osteoporosis, Procollagen-Proline Dioxygenase, Protein Disulfide-Isomerases, Dwarfism, 030105 genetics & heredity, Recurrent acute, Compound heterozygosity, Biochemistry, Short stature, Collagen Type I, Craniosynostoses, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, Exome Sequencing, Genetics, Humans, Medicine, Eye Abnormalities, Child, Molecular Biology, business.industry, Infant, Newborn, Infant, P4HB, Liver Failure, Acute, Osteogenesis Imperfecta, medicine.disease, Phenotype, Neoplasm Proteins, Liver, Osteogenesis imperfecta, Child, Preschool, Mutation, medicine.symptom, business, 030217 neurology & neurosurgery, Homeostasis, Hydrocephalus

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2288241d2338833a24e9dd269b5a3507
https://doi.org/10.1016/j.ymgme.2021.02.007

المؤلفون: María Elena Rodríguez‐García, Francisco Javier Cotrina‐Vinagre, Marcello Bellusci, Laura Hernández‐Sánchez, Ana Martínez de Aragón, Eduardo López‐Laso, Elena Martín‐Hernández, Francisco Martínez‐Azorín

المصدر: Human mutationREFERENCES. 43(10)

مصطلحات موضوعية: Brain Diseases, Neurodevelopmental Disorders, Seizures, RNA Splicing, Ubiquitin-Protein Ligases, Genetics, Ubiquitination, Humans, Muscle Hypotonia, Female, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48c6cf5995050d165aa9947918f99604
https://pubmed.ncbi.nlm.nih.gov/35753050

المؤلفون: Marcio Andrade-Campos, Pilar Alfonso, Pilar Irun, Judith Armstrong, Carmen Calvo, Jaime Dalmau, Maria-Rosario Domingo, Jose-Luis Barbera, Horacio Cano, Maria-Angeles Fernandez-Galán, Rafael Franco, Inmaculada Gracia, Miguel Gracia-Antequera, Angela Ibañez, Francisco Lendinez, Marcos Madruga, Elena Martin-Hernández, Maria del Mar O’Callaghan, Alberto Pérez del Soto, Yolanda Ruiz del Prado, Ignacio Sancho-Val, Pablo Sanjurjo, Miguel Pocovi, Pilar Giraldo

المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-9 (2017)

مصطلحات موضوعية: Children, Gaucher Disease, Enzymatic replacement therapy, Medicine

Relation: http://link.springer.com/article/10.1186/s13023-017-0627-z; https://doaj.org/toc/1750-1172; https://doaj.org/article/1a7e6eaf92fa43ff82a354ce89bf3c57

الاتاحة: https://doi.org/10.1186/s13023-017-0627-z
https://doaj.org/article/1a7e6eaf92fa43ff82a354ce89bf3c57

المؤلفون: María de los Ángeles Gómez‐Cano, Francisco Martínez-Azorín, Elena Martín-Hernández, Francisco Javier Cotrina-Vinagre, María Elena Rodríguez-García, Ana Martínez de Aragón

المصدر: American Journal of Medical Genetics Part A. 182:1483-1490

مصطلحات موضوعية: Microcephaly, Pathology, medicine.medical_specialty, business.industry, Diplegia, medicine.disease, Short stature, Hypotonia, Hydrocephalus, Epilepsy, Lateral ventricles, Genetics, medicine, medicine.symptom, business, Cerebellar hypoplasia, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::31c737a27768c93830d1b3869004bf19
https://doi.org/10.1002/ajmg.a.61560

المؤلفون: Ana Martínez de Aragón, Patricia Carnicero-Rodríguez, Francisco Javier Cotrina-Vinagre, Elena Martín-Hernández, Laura Hernández-Sánchez, Francisco Martínez-Azorín, Marcello Bellusci, María Elena Rodríguez-García

المصدر: Eur J Hum Genet

مصطلحات موضوعية: Genotype, Article, Electron Transport, 03 medical and health sciences, Epilepsy, Antiphospholipid syndrome, Genetics, Humans, Medicine, Allele, Alleles, Genetics (clinical), PI3K/AKT/mTOR pathway, Genes, Dominant, Comparative Genomic Hybridization, 0303 health sciences, business.industry, Kinase, TOR Serine-Threonine Kinases, 030305 genetics & heredity, Macrocephaly, Brain, Syndrome, Antiphospholipid Syndrome, medicine.disease, Magnetic Resonance Imaging, Hypotonia, Mitochondria, Muscle, Pedigree, Phenotype, Amino Acid Substitution, Neurodevelopmental Disorders, Child, Preschool, Gain of Function Mutation, Karyotyping, Cancer research, Female, medicine.symptom, business, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a70c1e6ccdd7c693d1d283c09898ab4
https://doi.org/10.1038/s41431-019-0418-1

المؤلفون: Efrén Arturo Pérez Pérez, Elisa Díaz Navarro, Elena Martín Hernández, Mayra Catalina Piña Molina, Armando Aguirre-Jaime, María Dolores Morejón Serrano, María Mercedes Novo Muñoz, José Ángel Rodríguez Gómez, María del Pino Navarro Hernández

المصدر: Revista Española de Geriatría y Gerontología. 54:129-135

مصطلحات موضوعية: 03 medical and health sciences, Aging, 0302 clinical medicine, 030502 gerontology, Medicine (miscellaneous), 030212 general & internal medicine, Geriatrics and Gerontology, 0305 other medical science

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5f7b77abdf6bbb4defe90afb5cfc11e4
https://doi.org/10.1016/j.regg.2018.11.012

المؤلفون: Elena Martín-Hernández, Michio Inoue, Kimberly Y. Lin, Allan M. Glanzman, Janbernd Kirschner, Eleonora Guadagnin, Lynn A. Megeney, David Schorling, Osorio Lopes Abath Neto, Patrick G. Burgon, Aurelio Hernández-Laín, Francisco Martínez-Azorín, Uta Lichter-Konecki, Ichizo Nishino, Gihan Tennekoon, Véronique Bolduc, Ying Hu, Linford Williams, Justin H Berger, John F. Brandsema, Livija Medne, María Elena Rodríguez-García, Konstantinos Kolokotronis, Carsten G. Bönnemann, S. Borell, Francisco Javier Cotrina-Vinagre, Brenda Banwell, A. Reghan Foley, Hirofumi Komaki, Mariarita Santi, Sandra Donkervoort

المصدر: Brain

مصطلحات موضوعية: myalgia, Male, medicine.medical_specialty, Adolescent, Cardiomyopathy, Cellular homeostasis, Rhabdomyolysis, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Muscular Diseases, Internal medicine, medicine, Humans, Myopathy, Child, Creatine Kinase, 030304 developmental biology, Aged, 80 and over, 0303 health sciences, Muscle Weakness, hyperCKemia, business.industry, Skeletal muscle, Genetic Variation, Nuclear Proteins, Original Articles, Myalgia, medicine.disease, medicine.anatomical_structure, Endocrinology, Child, Preschool, rhabdomyolysis, MLIP, Female, Neurology (clinical), medicine.symptom, business, cardiomyopathy, Co-Repressor Proteins, 030217 neurology & neurosurgery, Homeostasis, Lamin, myopathy

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fef5c2d3849877669948dbd4ea95014
https://pubmed.ncbi.nlm.nih.gov/35915960