Resultados de procura - Amaya Bélanger‐Quintana
- Mostrando 1 - 15 Resultados de 15
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Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results por Maria Giżewska, Anita MacDonald, Amaya Bélanger‐Quintana, Alberto Burlina, Maureen Cleary, Turgay Coşkun, François Feillet, Ania C. Muntau, Friedrich K. Trefz, Francjan J. van Spronsen, Nenad Blau
Publicado 2015Artigo -
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Special low protein foods for phenylketonuria: availability in Europe and an examination of their nutritional profile por Maria Pena, Manuela Almeida, Esther van Dam, Kirsten Ahring, Amaya Bélanger-Quintana, Katharina Dokoupil, Hülya Gökmen-Özel, Anna Maria Lammardo, Anita MacDonald, Martine Robert, Júlio César Rocha
Publicado 2015Artigo -
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Protein substitutes for phenylketonuria in Europe: access and nutritional composition por Maria Pena, Manuela Almeida, Esther van Dam, Kirsten Ahring, Amaya Bélanger-Quintana, K. Dokoupil, Hülya Gökmen-Özel, Anna Maria Lammardo, Anita MacDonald, Marianne Robert, Júlio César Rocha
Publicado 2016Artigo -
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Fluctuations in phenylalanine concentrations in phenylketonuria: A review of possible relationships with outcomes por Maureen Cleary, Friedrich K. Trefz, Ania C. Muntau, François Feillet, Francjan J. van Spronsen, Alberto Burlina, Amaya Bélanger‐Quintana, Maria Giżewska, Christoph Gasteyger, Esther Bettiol, Nenad Blau, Anita MacDonald
Publicado 2013Revisão -
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International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria por Ania C. Muntau, Darius J. Adams, Amaya Bélanger-Quintana, Т.V. Bushueva, R. Cerone, Yin‐Hsiu Chien, Ana Chiesa, Turgay Coşkun, Javier de las Heras, François Feillet, Rachel Katz, Florian B. Lagler, Flávia Piazzon, Fran Rohr, Francjan J. van Spronsen, Paula Vargas, Gisela Wilcox, Kaustuv Bhattacharya
Publicado 2019Revisão -
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PKU dietary handbook to accompany PKU guidelines por Anita MacDonald, Annemiek M. J. van Wegberg, Kirsten Ahring, Skadi Beblo, Amaya Bélanger-Quintana, Alberto Burlina, Josep M. Campistol, Turgay Coşkun, François Feillet, Maria Giżewska, Stephan C. J. Huijbregts, Vincenzo Leuzzi, F. Maillot, Ania C. Muntau, Júlio César Rocha, Cristina Romani, Friedrich K. Trefz, Francjan J. van Spronsen
Publicado 2020Revisão -
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Key European guidelines for the diagnosis and management of patients with phenylketonuria por Francjan J. van Spronsen, Annemiek M. J. van Wegberg, Kirsten Ahring, Amaya Bélanger‐Quintana, Nenad Blau, Annet M. Bosch, Alberto Burlina, Jaime Campistol, François Feillet, Maria Giżewska, Stephan C. J. Huijbregts, Shauna Kearney, Vincenzo Leuzzi, F. Maillot, Ania C. Muntau, F. K. Trefz, Margreet van Rijn, John H. Walter, Anita MacDonald
Publicado 2017Revisão -
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The complete European guidelines on phenylketonuria: diagnosis and treatment por Annemiek M. J. van Wegberg, Anita MacDonald, Kirsten Ahring, Amaya Bélanger-Quintana, Nenad Blau, Annet M. Bosch, Alberto Burlina, Josep M. Campistol, François Feillet, Maria Giżewska, Stephan C. J. Huijbregts, Shauna Kearney, Vincenzo Leuzzi, F. Maillot, Ania C. Muntau, M. van Rijn, Friedrich K. Trefz, J. H. Walter, Francjan J. van Spronsen
Publicado 2017Revisão -
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The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective por Mohamed A. Elmonem, Amaya Bélanger-Quintana, Andrea Bordugo, Ritma Boruah, Elisenda Cortès‐Saladelafont, Mounika Endrakanti, Pilar Giraldo, Sarah C. Grünert, Neerja Gupta, Madhulika Kabra, Ina Knerr, Johannes Krämer, Alice Kuster, Elena Levtchenko, Lock Hock Ngu, M. Mar Rovira‐Remisa, Jörn Oliver Sass, Jolanta Sykut‐Cegielska, Albina Tummolo, Lambertus P. van den Heuvel
Publicado 2020Artigo -
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Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region por Álvaro Martín‐Rivada, Laura Palomino Pérez, Pedro Ruiz‐Sala, Rosa Navarrete, Ana Cambra Conejero, Pilar Quijada Fraile, Ana Moráis López, Amaya Bélanger-Quintana, Elena Martín‐Hernández, Marcello Bellusci, E. 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
Publicado 2022Artigo -
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Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach por Barbara K. Burton, Á. Hermida Ameijeiras, Amaya Bélanger-Quintana, Heather Bell, Kendra Bjoraker, Shawn E. Christ, Mitzie Grant, Cary O. Harding, Stephan C. J. Huijbregts, Nicola Longo, Markey McNutt, Mina Nguyen‐Driver, André Luiz Santos Pessoa, Júlio César Rocha, Stephanie Sacharow, Amarilis Sanchez‐Valle, Serap Sivri, Jerry Vockley, Mark Walterfang, Sarah Whittle, Ania C. Muntau
Publicado 2022Artigo -
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Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases por Elena Martín‐Hernández, Luis Aldámiz‐Echevarría, E. Castejón-Ponce, Consuelo Pedrón‐Giner, María L. Couce, Juliana Serrano-Nieto, Guillem Pintos‐Morell, Amaya Bélanger-Quintana, Mercedes Martínez‐Pardo, María Teresa García‐Silva, Pilar Quijada‐Fraile, Isidro Vitoria, Jaime Dalmau, Rosa A. Lama‐More, María Amor Bueno-Delgado, Mirella del Toro-Riera, Inmaculada García‐Jiménez, Concepción Sierra-Córcoles, Mónica Ruiz‐Pons, Luis Peña Quintana, Inmaculada Vives‐Piñera, Ana Heloneida de Araújo Morais, Elena Balmaseda‐Serrano, Silvia Meavilla, Pablo Sanjurjo-Crespo, Celia Pérez‐Cerdá
Publicado 2014Artigo -
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The Genetic Landscape and Epidemiology of Phenylketonuria por Alicia Hillert, Yair Anikster, Amaya Bélanger-Quintana, Alberto Burlina, Barbara K. Burton, Carla Carducci, Ana Chiesa, John Christodoulou, Maja Đorđević, Lourdes R. Desviat, Aviva Eliyahu, Roeland A. F. Evers, Lena Fajkusova, François Feillet, Pedro E. Bonfim-Freitas, Maria Giżewska, П. Гундорова, Daniela Karall, Katya Kneller, Sergey I. Kutsev, Vincenzo Leuzzi, Harvey L. Levy, Uta Lichter‐Konecki, Ania C. Muntau, Farès Namour, Mariusz Ołtarzewski, Andrea Paras, Belén Pérez, Emil Polák, A. V. Polyakov, Francesco Porta, Marianne Rohrbach, Sabine Scholl‐Bürgi, Norma Spécola, Maja Stojiljković, Nan Shen, Luiz C. Santana‐da Silva, Anastasia Skouma, Francjan van Spronsen, Vera Stoppioni, Beat Thöny, Friedrich K. Trefz, Jerry Vockley, Youngguo Yu, Johannes Zschocke, Georg F. Hoffmann, Sven F. Garbade, Nenad Blau
Publicado 2020Artigo
Ferramentas de procura:
Materias Relacionadas
Medicine
Amino acid
Biochemistry
Biology
Pediatrics
Phenylalanine
Internal medicine
Phenylalanine hydroxylase
Chemistry
Phenylketonurias
Endocrinology
Environmental health
Genetics
Inborn error of metabolism
Intensive care medicine
Newborn screening
Pathology
Arginine
Artificial intelligence
Composition (language)
Computer science
Delphi method
Family medicine
Food science
Gene
Hyperammonemia
Hyperphenylalaninemia
Linguistics
Philosophy
Population