المؤلفون: Júlio César Rocha, Heather Bausell, Amaya Bélanger-Quintana, Laurie Bernstein, Hülya Gökmen-Özel, Alexandra Jung, Anita MacDonald, Fran Rohr, Esther van Dam, Margret Heddrich-Ellerbrok

المصدر: Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100771- (2021)

مصطلحات موضوعية: Phenylketonuria, PKU, Phenylalanine, Pegvaliase, Nutrition, Dietitian, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426921000653; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/7da1310c6578481e9e90c62904657daa

المؤلفون: Margreet van Rijn, Kirsten Ahring, Amaya Bélanger-Quintana, Kathi Dokoupil, Hulya Gokmen Ozel, Anna Maria Lammardo, Martine Robert, Júlio C. Rocha, Anita MacDonald

المصدر: Molecular Genetics and Metabolism Reports, Vol 2, Iss C, Pp 85-88 (2015)

مصطلحات موضوعية: Phenylketonuria, Adherence, Social services, Child protection, Foster care, Case study, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S221442691500004X; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/722aa4ce7b7443189746219d1c9f4176

المؤلفون: Alex Pinto, Kirsten Ahring, Manuela Ferreira Almeida, Catherine Ashmore, Amaya Bélanger-Quintana, Alberto Burlina, Turgay Coşkun, Anne Daly, Esther van Dam, Ali Dursun, Sharon Evans, François Feillet, Maria Giżewska, Hulya Gökmen-Özel, Mary Hickson, Yteke Hoekstra, Fatma Ilgaz, Richard Jackson, Alicja Leśniak, Christian Loro, Katarzyna Malicka, Michał Patalan, Júlio César Rocha, Serap Sivri, Iris Rodenburg, Francjan van Spronsen, Kamilla Strączek, Ayşegül Tokatli, Anita MacDonald

المصدر: Nutrients, Vol 16, Iss 17, p 2909 (2024)

مصطلحات موضوعية: phenylketonuria, natural protein intake, protein equivalent from protein substitute intake, total protein intake, phenylalanine intake, Nutrition. Foods and food supply, TX341-641

Relation: https://www.mdpi.com/2072-6643/16/17/2909; https://doaj.org/toc/2072-6643; https://doaj.org/article/8b417410d48748b998fa50b2715ab8ac

الاتاحة: https://doi.org/10.3390/nu16172909
https://doaj.org/article/8b417410d48748b998fa50b2715ab8ac

المؤلفون: Maria del Mar Meijon-Ortigueira, Isabel Solares, Cecilia Muñoz-Delgado, Sinziana Stanescu, Marta Morado, Cristina Pascual-Izquierdo, Lucía Villalon Blanco, Amaya Belanger Quintana, Covadonga Pérez Menéndez-Conde, Montserrat Morales-Conejo, Jesús Villarrubia-Espinosa

المصدر: Biomedicines, Vol 12, Iss 3, p 579 (2024)

مصطلحات موضوعية: Gaucher disease, women, enzyme-replacement therapy (ERT), substrate-reduction therapy (SRT), lysosomal-storage disorder, Biology (General), QH301-705.5

Relation: https://www.mdpi.com/2227-9059/12/3/579; https://doaj.org/toc/2227-9059; https://doaj.org/article/c0b14991a0d948f48d6d5020a2c89ed5

الاتاحة: https://doi.org/10.3390/biomedicines12030579
https://doaj.org/article/c0b14991a0d948f48d6d5020a2c89ed5

المؤلفون: Alex Pinto, Kirsten Ahring, Manuela Ferreira Almeida, Catherine Ashmore, Amaya Bélanger-Quintana, Alberto Burlina, Turgay Coşkun, Anne Daly, Esther van Dam, Ali Dursun, Sharon Evans, François Feillet, Maria Giżewska, Hulya Gökmen-Özel, Mary Hickson, Yteke Hoekstra, Fatma Ilgaz, Richard Jackson, Alicja Leśniak, Christian Loro, Katarzyna Malicka, Michał Patalan, Júlio César Rocha, Serap Sivri, Iris Rodenburg, Francjan van Spronsen, Kamilla Strączek, Ayşegül Tokatli, Anita MacDonald

المصدر: Nutrients, Vol 16, Iss 13, p 2064 (2024)

مصطلحات موضوعية: phenylketonuria, phenylalanine, tyrosine, hyperphenylalaninaemia, mild PKU, classical PKU, Nutrition. Foods and food supply, TX341-641

Relation: https://www.mdpi.com/2072-6643/16/13/2064; https://doaj.org/toc/2072-6643; https://doaj.org/article/42ba779829b34263b496416a7711d06f

الاتاحة: https://doi.org/10.3390/nu16132064
https://doaj.org/article/42ba779829b34263b496416a7711d06f

المؤلفون: Sinziana Stanescu, Patricia Correcher Medina, Francisco J. del Castillo, Olga Alonso Luengo, Luis Maria Arto Millan, Amaya Belanger Quintana, Maria Camprodon Gomez, Lydia Diez Langhetée, Oscar Garcia Campos, Ana Matas Garcia, Jimena Perez-Moreno, Barbara Rubio Gribble, Nuria Visa-Reñé, Pilar Giraldo-Castellano, Mar O’Callaghan Gordo

المصدر: Biomedicines, Vol 11, Iss 2861, p 2861 (2023)

مصطلحات موضوعية: Gaucher disease type 3, treatment, mutations, clinical manifestations, Biology (General), QH301-705.5

Relation: https://www.mdpi.com/2227-9059/11/10/2861; https://doaj.org/toc/2227-9059; https://doaj.org/article/5e5a3a4353424e60994aaa7c5732e1bf

الاتاحة: https://doi.org/10.3390/biomedicines11102861
https://doaj.org/article/5e5a3a4353424e60994aaa7c5732e1bf

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

المصدر: Antioxidants; Volume 11; Issue 8; Pages: 1588

مصطلحات موضوعية: propionic acidemia, CoQ10 deficiency, ubiquinol

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Health Outcomes of Antioxidants and Oxidative Stress; https://dx.doi.org/10.3390/antiox11081588

الاتاحة: https://doi.org/10.3390/antiox11081588

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: 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: Sinziana Stanescu, Irene Bravo-Alonso, Amaya Belanger-Quintana, Belen Pérez, Montserrat Medina-Diaz, Pedro Ruiz-Sala, Nathaly Paola Flores, Raquel Buenache, Francisco Arrieta, Pilar Rodríguez-Pombo

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)

مصطلحات موضوعية: Monocarboxylate transporter 1, Recurrent acidosis, Mitochondrial dysfunction, Psychomotor delay, White mater alterations, Corpus callosum agenesia, Medicine

Relation: https://doi.org/10.1186/s13023-022-02389-4; https://doaj.org/toc/1750-1172; https://doaj.org/article/bf838d3290344e92b33a55b04e45428f

الاتاحة: https://doi.org/10.1186/s13023-022-02389-4
https://doaj.org/article/bf838d3290344e92b33a55b04e45428f

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: Francisco Arrieta, Victoria Martinez-Vaello, Nuria Bengoa, Marta Rosillo, Angélica de Pablo, Cristina Voguel, Rosario Pintor, Amaya Belanger-Quintana, Raquel Mateo-Lobo, Angel Candela, José I. Botella-Carretero

المصدر: Nutrients; Volume 13; Issue 9; Pages: 3010

مصطلحات موضوعية: COVID-19, hyperglycemia, parenteral nutrition, enteral nutrition, osteocalcin

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Clinical Nutrition; https://dx.doi.org/10.3390/nu13093010

الاتاحة: https://doi.org/10.3390/nu13093010

المؤلفون: Ainara Cano, Carlos Alcalde, Amaya Belanger-Quintana, Elvira Cañedo-Villarroya, Leticia Ceberio, Silvia Chumillas-Calzada, Patricia Correcher, María Luz Couce, Dolores García-Arenas, Igor Gómez, Tomás Hernández, Elsa Izquierdo-García, Dámaris Martínez Chicano, Montserrat Morales, Consuelo Pedrón-Giner, Estrella Petrina Jáuregui, Luis Peña-Quintana, Paula Sánchez-Pintos, Juliana Serrano-Nieto, María Unceta Suarez, Isidro Vitoria Miñana, Javier de las Heras

المصدر: Journal of Clinical Medicine; Volume 10; Issue 13; Pages: 2932

مصطلحات موضوعية: hereditary fructose intolerance, fructose, sucrose, sorbitol, diet, sialotransferrin profile, biomarker, aldolase B

وصف الملف: application/pdf

Relation: Endocrinology & Metabolism; https://dx.doi.org/10.3390/jcm10132932

الاتاحة: https://doi.org/10.3390/jcm10132932

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

Relation: https://doi.org/10.1186/s13023-021-01865-7; https://doaj.org/toc/1750-1172; https://doaj.org/article/c21f6ba11f434c0e8b9358b24f8caf7d

الاتاحة: https://doi.org/10.1186/s13023-021-01865-7
https://doaj.org/article/c21f6ba11f434c0e8b9358b24f8caf7d

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: Adrián González-Quintana, Inés García-Consuegra, Amaya Belanger-Quintana, Pablo Serrano-Lorenzo, Alejandro Lucia, Alberto Blázquez, Jorge Docampo, Cristina Ugalde, María Morán, Joaquín Arenas, Miguel A. Martín

المصدر: Genes; Volume 11; Issue 8; Pages: 855

مصطلحات موضوعية: mitochondrial complex I deficiency, NDUFA13 gene, mitochondrial OXPHOS dysfunction, Leigh syndrome, OXPHOS assembly, OXPHOS diagnosis

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes11080855

الاتاحة: https://doi.org/10.3390/genes11080855

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

Relation: http://dx.doi.org/10.1155/2020/1370293; https://doaj.org/toc/2090-6803; https://doaj.org/toc/2090-6811; https://doaj.org/article/c53ac6959a3041ea8f88045bc8ffe8da

الاتاحة: https://doi.org/10.1155/2020/1370293
https://doaj.org/article/c53ac6959a3041ea8f88045bc8ffe8da

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: Fatma Ilgaz, Alex Pinto, Hülya Gökmen-Özel, Julio César Rocha, Esther van Dam, Kirsten Ahring, Amaya Bélanger-Quintana, Katharina Dokoupil, Erdem Karabulut, Anita MacDonald

المصدر: Nutrients; Volume 11; Issue 9; Pages: 2070

مصطلحات موضوعية: phenylketonuria, hyperphenylalaninemia, growth, anthropometrics, weight, height, z-scores

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/nu11092070

الاتاحة: https://doi.org/10.3390/nu11092070

المؤلفون: Barbara K. Burton, Álvaro Hermida, Amaya Bélanger-Quintana, Heather Bell, Kendra J. Bjoraker, Shawn E. Christ, Mitzie L. Grant, Cary O. Harding, Stephan C.J. Huijbregts, Nicola Longo, Markey C. McNutt, Mina D. Nguyen-Driver, André L. Santos Pessoa, Júlio César Rocha, Stephanie Sacharow, Amarilis Sanchez-Valle, H. Serap Sivri, Jerry Vockley, Mark Walterfang, Sarah Whittle, Ania C. Muntau

المصدر: Molecular genetics and metabolism. 137(1-2)

مصطلحات موضوعية: Adult, History, Consensus, Polymers and Plastics, Adolescent, Endocrinology, Diabetes and Metabolism, Biochemistry, Industrial and Manufacturing Engineering, Young Adult, Endocrinology, Phenylketonurias, Genetics, Humans, Mass Screening, Business and International Management, Child, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::228a753416bc927fbe9c2279a6edc2ce
https://pubmed.ncbi.nlm.nih.gov/36027720