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: Sinziana Stanescu, Amaya Belanger-Quintana, Borja Manuel Fernandez-Felix, Francisco Arrieta, Victor Quintero, Maria Soledad Maldonado, Patricia Alcaide, Mercedes Martínez-Pardo

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-6 (2021)

مصطلحات موضوعية: Propionic acidemia, Anemia, Diet, Protein-restricted, Branched-chain amino acids imbalance, Medicine

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/c21f6ba11f434c0e8b9358b24f8caf7d

المؤلفون: Sinziana Stanescu, Amaya Belanger-Quintana, Borja Manuel Fernández-Felix, Pedro Ruiz-Sala, Patricia Alcaide, Francisco Arrieta, Mercedes Martínez-Pardo

المصدر: Antioxidants, Vol 11, Iss 8, p 1588 (2022)

مصطلحات موضوعية: propionic acidemia, CoQ10 deficiency, ubiquinol, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2076-3921/11/8/1588; https://doaj.org/toc/2076-3921

URL الوصول: https://doaj.org/article/c63033fcc092491d91ac65c6d3af9b80

المؤلفون: Sinziana Stanescu, Amaya Belanger-Quintana, Carlos Alcalde Martin, Celia Pérez-Cerdá Silvestre, Begoña Merinero Cortés, Belen Gonzalez Pérez, Carmen Fernández García-Abril, Francisco Arrieta Blanco, Esperanza Palacios Valverde, Mercedes Martínez-Pardo Casanova

المصدر: Case Reports in Pediatrics, Vol 2020 (2020)

مصطلحات موضوعية: Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-6803; https://doaj.org/toc/2090-6811

URL الوصول: https://doaj.org/article/c53ac6959a3041ea8f88045bc8ffe8da

المؤلفون: Mercedes Martínez-Pardo

المصدر: Acta Pediátrica de México, Vol 33, Iss 6, Pp 319-323 (2014)

مصطلحات موضوعية: Tetrahidrobiopterina, hiperfenilalaninemia, sapropterina, tratamiento, diagnóstico, Medicine, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://ojs.actapediatrica.org.mx/index.php/APM/article/view/594; https://doaj.org/toc/0186-2391; https://doaj.org/toc/2395-8235

URL الوصول: https://doaj.org/article/ea7ae5fa92584fa88e8673fcb2fb19fe

المؤلفون: Mercedes Martínez-Pardo

المصدر: Acta Pediátrica de México, Vol 33, Iss 6, Pp 290-292 (2014)

مصطلحات موضوعية: Fenilcetonuria, PKU en adultos, sapropterina, errores innatos del metabolismo, Medicine, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://ojs.actapediatrica.org.mx/index.php/APM/article/view/587; https://doaj.org/toc/0186-2391; https://doaj.org/toc/2395-8235

URL الوصول: https://doaj.org/article/bb6eb5098286437283c8e857a46d0c45

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: Sinziana Stanescu (10820761), Amaya Belanger-Quintana (10820764), Borja Manuel Fernandez-Felix (10820767), Francisco Arrieta (10820770), Victor Quintero (10820773), Maria Soledad Maldonado (10820776), Patricia Alcaide (10820779), Mercedes Martínez-Pardo (10820782)

مصطلحات موضوعية: Biochemistry, Medicine, Genetics, Molecular Biology, Propionic acidemia, Anemia, Diet, Protein-restricted, Branched-chain amino acids imbalance

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Severe_anemia_in_patients_with_Propionic_acidemia_is_associated_with_branched-chain_amino_acid_imbalance/14615392

الاتاحة: https://doi.org/10.6084/m9.figshare.14615392.v1

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: 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

Relation: http://link.springer.com/article/10.1186/s13023-019-1036-2; https://doaj.org/toc/1750-1172; https://doaj.org/article/05d49c6bc6994b81a7acb386a29e24b7

الاتاحة: https://doi.org/10.1186/s13023-019-1036-2
https://doaj.org/article/05d49c6bc6994b81a7acb386a29e24b7

المؤلفون: Gonzalo Baonza, Sinziana Stanescu, Amaya Belanger-Quintana, Mercedes Martínez-Pardo, Francisco Arrieta

المصدر: Endocrinología, Diabetes y Nutrición. 70:64-65

مصطلحات موضوعية: Nutrition and Dietetics, Endocrinology, Endocrinology, Diabetes and Metabolism

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66e446ab331913b1dd8226ebbca20c28
https://doi.org/10.1016/j.endinu.2022.01.012

المؤلفون: Amaya Belanger-Quintana, Francisco Arrieta, Patricia Alcaide, Maria Soledad Maldonado, Sinziana Stanescu, Borja M. Fernandez-Felix, Victor Quintero, Mercedes Martínez-Pardo

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-6 (2021)
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Medical food, medicine.medical_specialty, Anemia, Branched-chain amino acid, Branched-chain amino acids imbalance, Propionic acidemia, Gastroenterology, chemistry.chemical_compound, Internal medicine, medicine, Humans, Pharmacology (medical), Decompensation, Protein-restricted, Letter to the Editor, Genetics (clinical), Retrospective Studies, Methionine, biology, business.industry, General Medicine, medicine.disease, Diet, Ferritin, chemistry, Spain, Inborn error of metabolism, biology.protein, Medicine, business, Amino Acids, Branched-Chain

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::858a3709705d049b31225200837573f2
https://doaj.org/article/c21f6ba11f434c0e8b9358b24f8caf7d

المؤلفون: Begoña Merinero, Celia Pérez-Cerdá, Pedro Ruiz-Sala, Francisco Arrieta, Mercedes Martínez-Pardo, Sinziana Stanescu, Amaya Belanger-Quintana, Borja M. Fernandez-Felix

المصدر: JIMD Reports

مصطلحات موضوعية: Research Report, follow‐up, propionic acidemia, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Urinary system, Metabolic acidosis, Hyperammonemia, Research Reports, Urine, medicine.disease, Biochemistry, Genetics and Molecular Biology (miscellaneous), Gastroenterology, Dried blood spot, Internal medicine, Metabolic control analysis, Internal Medicine, medicine, Propionic acidemia, business, Prospective cohort study, filter paper samples

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6020ed453a015ee4277f1260df713bac
http://europepmc.org/articles/PMC7802619

المؤلفون: Baruteau, Julien, Valayannopoulos, Vassili, Delgado, Maria Bueno, Cano, Aline, Couce, Maria L., Del Toro, Mireia, Donati, Maria Alice, Garcia-Cazorla, Angeles, Gil-Ortega, David, Gomez-de Quero, Pedro, Guffon, Nathalie, Hofstede, Floris C., Kalkan-Ucar, Sema, Coker, Mahmut, Lama-More, Rosa, Pichard, Samia, Casanova, Mercedes Martinez-Pardo, Molina, Agustin, Papadia, Francesco, Rosello, Patricia, Plisson, Celine, Le Mouhaer, Jeannie, Chakrapani, Anupam

مصطلحات موضوعية: Hyperammonaemia, Organic acidurias (OAs), OA decompensation episodes, Carglumic acid

Relation: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Orphanet Journal of Rare Diseases; https://hdl.handle.net/11454/52960; https://doi.org/10.1186/s13023-016-0406-2; 11

الاتاحة: https://hdl.handle.net/11454/52960
https://doi.org/10.1186/s13023-016-0406-2

المؤلفون: Ana, Cambra Conejero, Laura, Martínez Figueras, Alicia, Ortiz Temprado, Paula, Blanco Soto, Álvaro, Martín Rivada, Laura, Palomino Pérez, Elvira, Cañedo Villarroya, Consuelo, Pedrón Giner, Pilar, Quijada Fraile, Elena, Martín-Hernández, María Teresa, García Silva, Silvia, Chumillas Calzada, Marcello, Bellusci, Amaya, Belanger-Quintana, Sinziana, Stanescu, Mercedes, Martínez-Pardo Casanova, Ana, Moráis López, Ana, Bergua Martínez, Pedro, Ruiz-Salas, Belén, Pérez González, Magdalena, Ugarte, Miguel L F, Ruano

المصدر: Revista espanola de salud publica. 94

مصطلحات موضوعية: Male, Infant, Newborn, Acyl-CoA Dehydrogenase, Lipid Metabolism, Inborn Errors, Neonatal Screening, Predictive Value of Tests, Spain, Tandem Mass Spectrometry, Carnitine, Prevalence, Humans, Female, Cities, Amino Acid Metabolism, Inborn Errors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::8d66e73dc54eaa9752a0262e8b56e2ef
https://pubmed.ncbi.nlm.nih.gov/33372917

المؤلفون: Francisco Arrieta, Amaya Belanger-Quintana, Sinziana Stanescu, Mercedes Martínez-Pardo, Maria Soledad Maldonado, Patricia Alcaide, Victor Quintero

مصطلحات موضوعية: medicine.medical_specialty, Methionine, business.industry, Plasma levels, medicine.disease, Severe anemia, chemistry.chemical_compound, Endocrinology, chemistry, Valine, Internal medicine, medicine, In patient, Isoleucine, Propionic acidemia, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a175c2a9c9e39fd7d5a0853960e55047
https://doi.org/10.21203/rs.3.rs-62348/v1

المؤلفون: Belen Gonzalez Pérez, Mercedes Martínez-Pardo Casanova, Carmen Fernández García-Abril, Celia Pérez-Cerdá Silvestre, Sinziana Stanescu, Esperanza Palacios Valverde, Amaya Belanger-Quintana, Francisco Arrieta Blanco, Begoña Merinero Cortés, Carlos Alcalde Martin

المصدر: Case Reports in Pediatrics
Case Reports in Pediatrics, Vol 2020 (2020)

مصطلحات موضوعية: chemistry.chemical_classification, 0303 health sciences, medicine.medical_specialty, business.industry, 030305 genetics & heredity, Hypoketotic hypoglycemia, Hyperammonemia, Metabolic acidosis, Case Report, General Medicine, Neonatal onset, medicine.disease, Pediatrics, RJ1-570, 03 medical and health sciences, Endocrinology, chemistry, Oxidoreductase, Internal medicine, Medicine, Multiple Acyl-CoA Dehydrogenase Deficiency, business, Rhabdomyolysis, Beta oxidation, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb831cb6be66bb5fa8e9acaad53a524b
http://europepmc.org/articles/PMC7378605

المؤلفون: Francisco Arrieta Blanco, Amaya Bélanger Quintana, Sinziana Stanescu, Mercedes Martínez-Pardo, Nuria Bengoa Rojano

المصدر: Endocrinología, Diabetes y Nutrición
Endocrinologia, Diabetes Y Nutricion

مصطلحات موضوعية: 2019-20 coronavirus outbreak, Nutrition and Dietetics, Deficiency syndrome, Coronavirus disease 2019 (COVID-19), business.industry, Endocrinology, Diabetes and Metabolism, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), MEDLINE, medicine.disease, Endocrinology, Diabetes mellitus, Immunology, medicine, Carta Científica, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49e9b8ecf8ce0568f2ebd76ddc6e7232
https://doi.org/10.1016/j.endinu.2020.07.001

المؤلفون: Sinziana Stanescu (10820761), Amaya Belanger-Quintana (10820764), Borja Manuel Fernandez-Felix (10820767), Francisco Arrieta (10820770), Victor Quintero (10820773), Maria Soledad Maldonado (10820776), Patricia Alcaide (10820779), Mercedes Martínez-Pardo (10820782)

مصطلحات موضوعية: Biochemistry, Medicine, Genetics, Molecular Biology, Propionic acidemia, Anemia, Diet, Protein-restricted, Branched-chain amino acids imbalance

Relation: https://figshare.com/articles/dataset/Additional_file_2_of_Severe_anemia_in_patients_with_Propionic_acidemia_is_associated_with_branched-chain_amino_acid_imbalance/14615395

الاتاحة: https://doi.org/10.6084/m9.figshare.14615395.v1

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

المصدر: Nutrients; Jul2022, Vol. 14 Issue 13, p2755-N.PAG, 11p