Hasil Pencarian - Amaya Belanger-Quintana

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  1. 1
    Plasma CoQ10 Status in Patients with Propionic Acidaemia and Possible Benefit of Treatment with Ubiquinol

    Plasma CoQ10 Status in Patients with Propionic Acidaemia and Possible Benefit of Treatment with Ubiquinol oleh Sinziana Stanescu, Amaya Belanger-Quintana, Borja Manuel Fernández-Felix, Pedro Ruiz-Sala, Patricia Alcaide, Francisco Arrieta, Mercedes Martínez-Pardo

    Diterbitkan 2022-08-01
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  2. 2
    Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalance

    Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalance oleh Sinziana Stanescu, Amaya Belanger-Quintana, Borja Manuel Fernandez-Felix, Francisco Arrieta, Victor Quintero, Maria Soledad Maldonado, Patricia Alcaide, Mercedes Martínez-Pardo

    Diterbitkan 2021-05-01
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  3. 3
    When should social service referral be considered in phenylketonuria?

    When should social service referral be considered in phenylketonuria? oleh Margreet van Rijn, Kirsten Ahring, Amaya Bélanger-Quintana, Kathi Dokoupil, Hulya Gokmen Ozel, Anna Maria Lammardo, Martine Robert, Júlio C. Rocha, Anita MacDonald

    Diterbitkan 2015-03-01
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  4. 4
    Long-Term Growth in Phenylketonuria: A Systematic Review and Meta-Analysis

    Long-Term Growth in Phenylketonuria: A Systematic Review and Meta-Analysis oleh Fatma Ilgaz, Alex Pinto, Hülya Gökmen-Özel, Julio César Rocha, Esther van Dam, Kirsten Ahring, Amaya Bélanger-Quintana, Katharina Dokoupil, Erdem Karabulut, Anita MacDonald

    Diterbitkan 2019-09-01
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  5. 5
    Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase

    Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase oleh 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

    Diterbitkan 2021-09-01
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  6. 6
    Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature

    Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature oleh 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

    Diterbitkan 2022-06-01
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  7. 7
    Stress Hyperglycemia and Osteocalcin in COVID-19 Critically Ill Patients on Artificial Nutrition

    Stress Hyperglycemia and Osteocalcin in COVID-19 Critically Ill Patients on Artificial Nutrition oleh 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

    Diterbitkan 2021-08-01
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  8. 8
    Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency

    Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency oleh 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

    Diterbitkan 2020-01-01
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  9. 9
    The Role of the Gut Microbiota in Sanfilippo Syndrome’s Physiopathology: An Approach in Two Affected Siblings

    The Role of the Gut Microbiota in Sanfilippo Syndrome’s Physiopathology: An Approach in Two Affected Siblings oleh Raquel Barbero-Herranz, María Garriga-García, Ana Moreno-Blanco, Esther Palacios, Pedro Ruiz-Sala, Saioa Vicente-Santamaría, Sinziana Stanescu, Amaya Belanger-Quintana, Guillem Pintos-Morell, Beatriz Arconada, Rosa del Campo, José Avendaño-Ortiz

    Diterbitkan 2024-08-01
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  10. 10
    Women with Gaucher Disease

    Women with Gaucher Disease oleh 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

    Diterbitkan 2024-03-01
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  11. 11
    Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients

    Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients oleh 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

    Diterbitkan 2022-07-01
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  12. 12
    Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study

    Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study oleh 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

    Diterbitkan 2023-10-01
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  13. 13
    Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region

    Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region oleh 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

    Diterbitkan 2022-03-01
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  14. 14
    Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?

    Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape? oleh 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

    Diterbitkan 2024-06-01
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  15. 15
    Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity

    Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity oleh 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

    Diterbitkan 2024-08-01
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