Key European guidelines for the diagnosis and management of patients with phenylketonuria
van Spronsen, Francjan J, Prof, van Wegberg, Annemiek MJ, MSc, Ahring, Kirsten, MSc, Bélanger-Quintana, Amaya, MD, Blau, Nenad, Prof, Bosch, Annet M, MD, Burlina, Alberto, MD, Campistol, Jaime, Prof, Feillet, Francois, Prof, Giżewska, Maria, MD, Huijbregts, Stephan C, PhD, Kearney, Shauna, MSc, Leuzzi, Vincenzo, Prof, Maillot, Francois, MD, Muntau, Ania C, Prof, Trefz, Fritz K, Prof, van Rijn, Margreet, PhD, Walter, John H, Prof, MacDonald, Anita, Prof
Published in The lancet. Diabetes & endocrinology (01.09.2017)
Published in The lancet. Diabetes & endocrinology (01.09.2017)
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Management of phenylketonuria in European PKU centres remains heterogeneous
Ahring, Kirsten, Bélanger-Quintana, Amaya, Burlina, Alberto, Giżewska, Maria, Maillot, Francois, Muntau, Ania, Roscher, Anne, MacDonald, Anita
Published in Molecular genetics and metabolism (01.01.2024)
Published in Molecular genetics and metabolism (01.01.2024)
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Long-Term Growth in Phenylketonuria: A Systematic Review and Meta-Analysis
Ilgaz, Fatma, Pinto, Alex, Gökmen-Özel, Hülya, Rocha, Julio César, van Dam, Esther, Ahring, Kirsten, Bélanger-Quintana, Amaya, Dokoupil, Katharina, Karabulut, Erdem, MacDonald, Anita
Published in Nutrients (03.09.2019)
Published in Nutrients (03.09.2019)
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Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?
Pinto, Alex, Ahring, Kirsten, Almeida, Manuela Ferreira, Ashmore, Catherine, Bélanger-Quintana, Amaya, Burlina, Alberto, Coşkun, Turgay, Daly, Anne, van Dam, Esther, Dursun, Ali, Evans, Sharon, Feillet, François, Giżewska, Maria, Gökmen-Özel, Hulya, Hickson, Mary, Hoekstra, Yteke, Ilgaz, Fatma, Jackson, Richard, Leśniak, Alicja, Loro, Christian, Malicka, Katarzyna, Patalan, Michał, Rocha, Júlio César, Sivri, Serap, Rodenburg, Iris, van Spronsen, Francjan, Strączek, Kamilla, Tokatli, Ayşegül, MacDonald, Anita
Published in Nutrients (01.07.2024)
Published in Nutrients (01.07.2024)
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Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients
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
Published in Nutrients (02.07.2022)
Published in Nutrients (02.07.2022)
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Journal Article
Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase
Rocha, Júlio César, Bausell, Heather, Bélanger-Quintana, Amaya, Bernstein, Laurie, Gökmen-Özel, Hülya, Jung, Alexandra, MacDonald, Anita, Rohr, Fran, van Dam, Esther, Heddrich-Ellerbrok, Margret
Published in Molecular genetics and metabolism reports (01.09.2021)
Published in Molecular genetics and metabolism reports (01.09.2021)
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Journal Article
Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study
Keil, Stefanie, Anjema, Karen, van Spronsen, Francjan J, Lambruschini, Nilo, Burlina, Alberto, Bélanger-Quintana, Amaya, Couce, Maria L, Feillet, Francois, Cerone, Roberto, Lotz-Havla, Amelie S, Muntau, Ania C, Bosch, Annet M, Meli, Concetta A P, Billette de Villemeur, Thierry, Kern, Ilse, Riva, Enrica, Giovannini, Marcello, Damaj, Lena, Leuzzi, Vincenzo, Blau, Nenad
Published in Pediatrics (Evanston) (01.06.2013)
Published in Pediatrics (Evanston) (01.06.2013)
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Journal Article
Adjusting diet with sapropterin in phenylketonuria: what factors should be considered?
MacDonald, Anita, Ahring, Kirsten, Dokoupil, Katharina, Gokmen-Ozel, Hulya, Lammardo, Anna Maria, Motzfeldt, Kristina, Robert, Martine, César Rocha, Júlio, van Rijn, Margreet, Bélanger-Quintana, Amaya
Published in British journal of nutrition (28.07.2011)
Published in British journal of nutrition (28.07.2011)
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Journal Article
Parent knowledge regarding food selection for children with PKU: Results of a survey in the United States
Ramos-Álvarez, Rodolfo, Kapp, Maili, Bélanger-Quintana, Amaya, Rodríguez-Ruiz, María Mercedes, Solano-Galvis, César Augusto, Campos Soto, Antonio, Ahring, Kirsten, Waisbren, Susan E.
Published in Nutrition (Burbank, Los Angeles County, Calif.) (01.12.2023)
Published in Nutrition (Burbank, Los Angeles County, Calif.) (01.12.2023)
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Journal Article
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria
Muntau, Ania C., Adams, Darius J., Bélanger-Quintana, Amaya, Bushueva, Tatiana V., Cerone, Roberto, Chien, Yin-Hsiu, Chiesa, Ana, Coşkun, Turgay, de las Heras, Javier, Feillet, François, Katz, Rachel, Lagler, Florian, Piazzon, Flavia, Rohr, Fran, van Spronsen, Francjan J., Vargas, Paula, Wilcox, Gisela, Bhattacharya, Kaustuv
Published in Molecular genetics and metabolism (01.05.2019)
Published in Molecular genetics and metabolism (01.05.2019)
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Journal Article
When should social service referral be considered in phenylketonuria?
van Rijn, Margreet, Ahring, Kirsten, Bélanger-Quintana, Amaya, Dokoupil, Kathi, Ozel, Hulya Gokmen, Lammardo, Anna Maria, Robert, Martine, Rocha, Júlio C., MacDonald, Anita
Published in Molecular genetics and metabolism reports (01.03.2015)
Published in Molecular genetics and metabolism reports (01.03.2015)
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Journal Article
Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach
Burton, Barbara K., Hermida, Álvaro, Bélanger-Quintana, Amaya, Bell, Heather, Bjoraker, Kendra J., Christ, Shawn E., Grant, Mitzie L., Harding, Cary O., Huijbregts, Stephan C.J., Longo, Nicola, McNutt, Markey C., Nguyen-Driver, Mina D., Santos Pessoa, André L., Rocha, Júlio César, Sacharow, Stephanie, Sanchez-Valle, Amarilis, Sivri, H. Serap, Vockley, Jerry, Walterfang, Mark, Whittle, Sarah, Muntau, Ania C.
Published in Molecular genetics and metabolism (01.09.2022)
Published in Molecular genetics and metabolism (01.09.2022)
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Journal Article
Special low protein foods for phenylketonuria: availability in Europe and an examination of their nutritional profile
Pena, Maria João, Almeida, Manuela Ferreira, van Dam, Esther, Ahring, Kirsten, Bélanger-Quintana, Amaya, Dokoupil, Katharina, Gokmen-Ozel, Hulya, Lammardo, Anna Maria, MacDonald, Anita, Robert, Martine, Rocha, Júlio César
Published in Orphanet journal of rare diseases (22.12.2015)
Published in Orphanet journal of rare diseases (22.12.2015)
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Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns
Martín-Rivada, Álvaro, Cambra Conejero, Ana, Martín-Hernández, Elena, Moráis López, Ana, Bélanger-Quintana, Amaya, Cañedo Villarroya, Elvira, Quijada-Fraile, Pilar, Bellusci, Marcelo, Chumillas Calzada, Silvia, Bergua Martínez, Ana, Stanescu, Sinziana, Martínez-Pardo Casanova, Mercedes, Ruíz-Sala, Pedro, Ugarte, Magdalena, Pérez González, Belén, Pedrón-Giner, Consuelo
Published in Journal of Pediatric Endocrinology & Metabolism (26.10.2022)
Published in Journal of Pediatric Endocrinology & Metabolism (26.10.2022)
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Journal Article
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia
Gallego, Diana, Leal, Fátima, Gámez, Alejandra, Castro, Margarita, Navarrete, Rosa, Sanchez‐Lijarcio, Obdulia, Vitoria, Isidro, Bueno‐Delgado, María, Belanger‐Quintana, Amaya, Morais, Ana, Pedrón‐Giner, Consuelo, García, Inmaculada, Campistol, Jaume, Artuch, Rafael, Alcaide, Carlos, Cornejo, Veronica, Gil, David, Yahyaoui, Raquel, Desviat, Lourdes R., Ugarte, Magdalena, Martínez, Aurora, Pérez, Belén
Published in Human mutation (01.07.2020)
Published in Human mutation (01.07.2020)
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Journal Article
Fluctuations in phenylalanine concentrations in phenylketonuria: A review of possible relationships with outcomes
Cleary, Maureen, Trefz, Friedrich, Muntau, Ania C., Feillet, François, van Spronsen, Francjan J., Burlina, Alberto, Bélanger-Quintana, Amaya, Giżewska, Maria, Gasteyger, Christoph, Bettiol, Esther, Blau, Nenad, MacDonald, Anita
Published in Molecular genetics and metabolism (01.12.2013)
Published in Molecular genetics and metabolism (01.12.2013)
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Journal Article
Weight Management in Phenylketonuria: What Should Be Monitored
Rocha, Julio César, van Rijn, Margreet, van Dam, Esther, Ahring, Kirsten, Bélanger-Quintana, Amaya, Dokoupil, Katharina, Gokmen Ozel, Hulya, Lammardo, Anna Maria, Robert, Martine, Heidenborg, Carina, MacDonald, Anita
Published in Annals of nutrition and metabolism (01.01.2016)
Published in Annals of nutrition and metabolism (01.01.2016)
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Journal Article
Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity
Pinto, Alex, Ahring, Kirsten, Almeida, Manuela Ferreira, Ashmore, Catherine, Bélanger-Quintana, Amaya, Burlina, Alberto, Coşkun, Turgay, Daly, Anne, van Dam, Esther, Dursun, Ali, Evans, Sharon, Feillet, François, Giżewska, Maria, Gökmen-Özel, Hulya, Hickson, Mary, Hoekstra, Yteke, Ilgaz, Fatma, Jackson, Richard, Leśniak, Alicja, Loro, Christian, Malicka, Katarzyna, Patalan, Michał, Rocha, Júlio César, Sivri, Serap, Rodenburg, Iris, van Spronsen, Francjan, Strączek, Kamilla, Tokatli, Ayşegül, MacDonald, Anita
Published in Nutrients (31.08.2024)
Published in Nutrients (31.08.2024)
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Journal Article
Optimizing the use of sapropterin (BH4) in the management of phenylketonuria
Blau, Nenad, Bélanger-Quintana, Amaya, Demirkol, Mübeccel, Feillet, François, Giovannini, Marcello, MacDonald, Anita, Trefz, Friedrich K., van Spronsen, Francjan J.
Published in Molecular genetics and metabolism (01.04.2009)
Published in Molecular genetics and metabolism (01.04.2009)
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Journal Article
Challenges and pitfalls in the management of phenylketonuria
Feillet, François, van Spronsen, Francjan J, MacDonald, Anita, Trefz, Friedrich K, Demirkol, Mübeccel, Giovannini, Marcello, Bélanger-Quintana, Amaya, Blau, Nenad
Published in Pediatrics (Evanston) (01.08.2010)
Published in Pediatrics (Evanston) (01.08.2010)
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