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1.

Management of phenylketonuria in European PKU centres remains heterogeneous.

Ahring, Kirsten; Bélanger-Quintana, Amaya; Burlina, Alberto; Gizewska, Maria; Maillot, Francois; Muntau, Ania; Roscher, Anne; MacDonald, Anita.

Mol Genet Metab ; 141(1): 108120, 2024 01.

Artículo en Inglés | MEDLINE | ID: mdl-38159545

2.

Satisfaction with home blood sampling methods and expectations for future point-of-care testing in phenylketonuria: Perspectives from patients and professionals.

Kuypers, Allysa M; Vliet, Kimber Evers-van; MacDonald, Anita; Ahring, Kirsten; Abeln, David; Ford, Suzanne; Hildebrandt-Karlsen, Sanne; van Spronsen, Francjan J; Heiner-Fokkema, M Rebecca.

Mol Genet Metab ; 142(1): 108361, 2024 May.

Artículo en Inglés | MEDLINE | ID: mdl-38442492

3.

The impact of phenylalanine levels during pregnancy on birth weight and later development in children born to women with phenylketonuria.

Nielsen, Maja Risager; Jørgensen, Christine; Ahring, Kirsten; Lund, Allan Meldgaard; Ørngreen, Mette Cathrine.

J Inherit Metab Dis ; 46(4): 586-594, 2023 07.

Artículo en Inglés | MEDLINE | ID: mdl-36843352

4.

Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo ¹H-NMR Analysis.

Cannet, Claire; Bayat, Allan; Frauendienst-Egger, Georg; Freisinger, Peter; Spraul, Manfred; Himmelreich, Nastassja; Kockaya, Musa; Ahring, Kirsten; Godejohann, Markus; MacDonald, Anita; Trefz, Friedrich.

Molecules ; 28(13)2023 Jun 22.

Artículo en Inglés | MEDLINE | ID: mdl-37446577

5.

Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria.

Zori, Roberto; Ahring, Kirsten; Burton, Barbara; Pastores, Gregory M; Rutsch, Frank; Jha, Ashok; Jurecki, Elaina; Rowell, Richard; Harding, Cary.

Mol Genet Metab ; 128(1-2): 92-101, 2019.

Artículo en Inglés | MEDLINE | ID: mdl-31439512

6.

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.

Ann Nutr Metab ; 68(1): 60-5, 2016.

Artículo en Inglés | MEDLINE | ID: mdl-26598928

7.

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.

Nutrition ; 116: 112201, 2023 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-37804556

8.

Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria.

Rocha, Júlio César; Ahring, Kirsten K; Bausell, Heather; Bilder, Deborah A; Harding, Cary O; Inwood, Anita; Longo, Nicola; Muntau, Ania C; Pessoa, André L Santos; Rohr, Fran; Sivri, Serap; Hermida, Álvaro.

Nutrients ; 15(18)2023 Sep 11.

Artículo en Inglés | MEDLINE | ID: mdl-37764724

9.

The effect of casein glycomacropeptide versus free synthetic amino acids for early treatment of phenylketonuria in a mice model.

Ahring, Kirsten K; Dagnæs-Hansen, Frederik; Brüel, Annemarie; Christensen, Mette; Jensen, Erik; Jensen, Thomas G; Johannsen, Mogens; Johansen, Karen S; Lund, Allan M; Madsen, Jesper G; Brøndum-Nielsen, Karen; Pedersen, Michael; Sørensen, Lambert K; Kjolby, Mads; Møller, Lisbeth B.

PLoS One ; 17(1): e0261150, 2022.

Artículo en Inglés | MEDLINE | ID: mdl-35015767

10.

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; Rocha, Júlio César; van Rijn, Margreet; Bélanger-Quintana, Amaya.

Br J Nutr ; 106(2): 175-82, 2011 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-21466737

11.

Adaptation and Validation of a Questionnaire to Evaluate Knowledge of the Low Phe Diet in PKU.

Ramos-Álvarez, Rodolfo; Kapp, Maili; Rodríguez-Ruiz, María Mercedes; Fausor, Rocío; Bueno-Delgado, María Amor; Ahring, Kirsten; Waisbren, Susan E.

Nutrients ; 13(8)2021 Aug 07.

Artículo en Inglés | MEDLINE | ID: mdl-34444879

12.

Is the Phenylalanine-Restricted Diet a Risk Factor for Overweight or Obesity in Patients with Phenylketonuria (PKU)? A Systematic Review and Meta-Analysis.

Rodrigues, Catarina; Pinto, Alex; Faria, Ana; Teixeira, Diana; van Wegberg, Annemiek M J; Ahring, Kirsten; Feillet, François; Calhau, Conceição; MacDonald, Anita; Moreira-Rosário, André; Rocha, Júlio César.

Nutrients ; 13(10)2021 Sep 28.

Artículo en Inglés | MEDLINE | ID: mdl-34684443

13.

Large neutral amino acids in daily practice.

Ahring, Kirsten Kiær.

J Inherit Metab Dis ; 33 Suppl 3: S187-90, 2010 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-20300852

14.

A series of three case reports in patients with phenylketonuria performing regular exercise: first steps in dietary adjustment.

Rocha, Júlio César; van Dam, Esther; Ahring, Kirsten; Almeida, Manuela Ferreira; Bélanger-Quintana, Amaya; Dokoupil, Katharina; Gökmen-Özel, Hülya; Robert, Martine; Heidenborg, Carina; Harbage, Emma; MacDonald, Anita.

J Pediatr Endocrinol Metab ; 32(6): 635-641, 2019 Jun 26.

Artículo en Inglés | MEDLINE | ID: mdl-31112507

15.

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.

Nutrients ; 11(9)2019 Sep 03.

Artículo en Inglés | MEDLINE | ID: mdl-31484352

16.

Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?

van Vliet, Danique; van Wegberg, Annemiek M J; Ahring, Kirsten; Bik-Multanowski, Miroslaw; Casas, Kari; Didycz, Bozena; Djordjevic, Maja; Hertecant, Jozef L; Leuzzi, Vincenzo; Mathisen, Per; Nardecchia, Francesca; Powell, Kimberly K; Rutsch, Frank; Stojiljkovic, Maja; Trefz, Fritz K; Usurelu, Natalia; Wilson, Callum; van Karnebeek, Clara D; Hanley, William B; van Spronsen, Francjan J.

Nutrients ; 11(11)2019 Oct 25.

Artículo en Inglés | MEDLINE | ID: mdl-31731404

17.

Comparison of Glycomacropeptide with Phenylalanine Free-Synthetic Amino Acids in Test Meals to PKU Patients: No Significant Differences in Biomarkers, Including Plasma Phe Levels.

Ahring, Kirsten K; Lund, Allan M; Jensen, Erik; Jensen, Thomas G; Brøndum-Nielsen, Karen; Pedersen, Michael; Bardow, Allan; Holst, Jens Juul; Rehfeld, Jens F; Møller, Lisbeth B.

J Nutr Metab ; 2018: 6352919, 2018.

Artículo en Inglés | MEDLINE | ID: mdl-29511574

18.

Can untreated PKU patients escape from intellectual disability? A systematic review.

van Vliet, Danique; van Wegberg, Annemiek M J; Ahring, Kirsten; Bik-Multanowski, Miroslaw; Blau, Nenad; Bulut, Fatma D; Casas, Kari; Didycz, Bozena; Djordjevic, Maja; Federico, Antonio; Feillet, François; Gizewska, Maria; Gramer, Gwendolyn; Hertecant, Jozef L; Hollak, Carla E M; Jørgensen, Jens V; Karall, Daniela; Landau, Yuval; Leuzzi, Vincenzo; Mathisen, Per; Moseley, Kathryn; Mungan, Neslihan Ö; Nardecchia, Francesca; Õunap, Katrin; Powell, Kimberly K; Ramachandran, Radha; Rutsch, Frank; Setoodeh, Aria; Stojiljkovic, Maja; Trefz, Fritz K; Usurelu, Natalia; Wilson, Callum; van Karnebeek, Clara D; Hanley, William B; van Spronsen, Francjan J.

Orphanet J Rare Dis ; 13(1): 149, 2018 08 29.

Artículo en Inglés | MEDLINE | ID: mdl-30157945

19.

Key European guidelines for the diagnosis and management of patients with phenylketonuria.

van Spronsen, Francjan J; van Wegberg, Annemiek Mj; Ahring, Kirsten; Bélanger-Quintana, Amaya; Blau, Nenad; Bosch, Annet M; Burlina, Alberto; Campistol, Jaime; Feillet, Francois; Gizewska, Maria; Huijbregts, Stephan C; Kearney, Shauna; Leuzzi, Vincenzo; Maillot, Francois; Muntau, Ania C; Trefz, Fritz K; van Rijn, Margreet; Walter, John H; MacDonald, Anita.

Lancet Diabetes Endocrinol ; 5(9): 743-756, 2017 09.

Artículo en Inglés | MEDLINE | ID: mdl-28082082

20.

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.

Mol Genet Metab Rep ; 2: 85-88, 2015 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-28649533

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