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

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/1e43991c7efe4b65b577dbeda655da5f

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

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/1a7e6eaf92fa43ff82a354ce89bf3c57

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

Relation: https://www.frontiersin.org/articles/10.3389/fnut.2024.1416466/full; https://doaj.org/toc/2296-861X; https://doaj.org/article/30bdbda0d506472f9e9a7a91e5fcffb7

الاتاحة: https://doi.org/10.3389/fnut.2024.1416466
https://doaj.org/article/30bdbda0d506472f9e9a7a91e5fcffb7

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: 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

Relation: https://doi.org/10.1002/jmd2.12265; https://doaj.org/toc/2192-8312; https://doaj.org/article/1b8b5ea5967a4cc4a9736f613e6e8269

الاتاحة: https://doi.org/10.1002/jmd2.12265
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

Relation: https://doi.org/10.1186/s13023-021-02074-y; https://doaj.org/toc/1750-1172; https://doaj.org/article/45d102193e154f53a8b2f74d26c527a5

الاتاحة: https://doi.org/10.1186/s13023-021-02074-y
https://doaj.org/article/45d102193e154f53a8b2f74d26c527a5

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: 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

Relation: http://link.springer.com/article/10.1186/s13023-018-0825-3; https://doaj.org/toc/1750-1172; https://doaj.org/article/fe013e7e4ed249f6a19b18adfd360c6a

الاتاحة: https://doi.org/10.1186/s13023-018-0825-3
https://doaj.org/article/fe013e7e4ed249f6a19b18adfd360c6a