SOCIETY FOR THE STUDY
OF INBORN ERRORS OF METABOLISM

2019

Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels 
Cristina Romani, Filippo Manti, Francesca Nardecchia, Federica Valentini, Nicoletta Fallarino, Claudia Carducci, Sabrina De Leo, Anita MacDonald, Liana Palermo, Vincenzo Leuzzi

Website

2019

Glycomacropeptide: long-term use and impact on blood phenylalanine, growth and nutritional status in children with PKU 
Anne Daly, Sharon Evans, Satnam Chahal, Saikat Santra, Alex Pinto, Richard Jackson, Cerys Gingell, Júlio César Rocha, Francjan van Spronsen, Anita MacDonald

Website

2019

The Effect of Various Doses of Phenylalanine Supplementation on Blood Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients 
Willem G van Ginkel, Hannah E van Reemst, Nienke S Kienstra, Anne Daly, Iris L Rodenburg, Anita MacDonald, Johannes G M Burgerhof, Pim de Blaauw, Jennifer van de Krogt, Saikat Santra, M Rebecca Heiner-Fokkema, Francjan J van Spronsen

Website

2019

Dietary practices in methylmalonic acidaemia: a European survey 
Alex Pinto, Sharon Evans, Anne Daly, Manuela Ferreira Almeida, Murielle Assoun, Amaya Belanger-Quintana, Silvia Maria Bernabei, Sandra Bollhalder, David Cassiman, Helena Champion, Heidi Chan, Karen Corthouts, Jaime Dalmau, Foekje de Boer, Corinne De Laet, An de Meyer, An Desloovere, Alice Dianin, Marjorie Dixon, Katharina Dokoupil, Sandrine Dubois, Francois Eyskens, Ana Faria, Ilaria Fasan, Elisabeth Favre, François Feillet, Anna Fekete, Giorgia Gallo, Cerys Gingell, Joanna Gribben, Kit Kaalund Hansen, Nienke Ter Horst, Camille Jankowski, Renske Janssen-Regelink, Ilana Jones, Catherine Jouault, Gudrun Elise Kahrs, Irene Kok, Agnieszka Kowalik, Catherine Laguerre, Sandrine Le Verge, Alessandra Liguori, Rina Lilje, Cornelia Maddalon, Doris Mayr, Uta Meyer, Avril Micciche, Ulrike Och, Martine Robert, Júlio César Rocha, Hazel Rogozinski, Carmen Rohde, Kathleen Ross, Isabelle Saruggia, Andrea Schlune, Kath Singleton, Elisabeth Sjoqvist, Rachel Skeath, Linn Helene Stolen, Allyson Terry, Corrie Timmer, Lyndsey Tomlinson, Alison Tooke, Kristel Vande Kerckhove, Esther van Dam, Dorine van den Hurk, Liesbeth van der Ploeg, Marleen van Driessche, Margreet van Rijn, Annemiek van Wegberg, Carla Vasconcelos, Helle Vestergaard, Isidro Vitoria, Diana Webster, Fiona White, Lucy White, Heidi Zweers, Anita MacDonald

Website

2019

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

Website

2019

The European Phenylketonuria Guidelines and the challenges on management practices in Portugal 
Cátia Sousa, Manuela Ferreira Almeida, Catarina Sousa Barbosa, Esmeralda Martins, Patrícia Janeiro, Isabel Tavares de Almeida, Anita MacDonald, Júlio César Rocha

Website

2019

A series of three case reports in patients with phenylketonuria performing regular exercise: first steps in dietary adjustment 
Júlio César Rocha, Esther van Dam, Kirsten Ahring, Manuela Ferreira Almeida, Amaya Bélanger-Quintana, Katharina Dokoupil, Hülya Gökmen-Özel, Martine Robert, Carina Heidenborg, Emma Harbage, Anita MacDonald

Website

2019

Over Restriction of Dietary Protein Allowance: The Importance of Ongoing Reassessment of Natural Protein Tolerance in Phenylketonuria 
Alex Pinto, Manuela Ferreira Almeida, Anita MacDonald, Paula Cristina Ramos, Sara Rocha, Arlindo Guimas, Rosa Ribeiro, Esmeralda Martins, Anabela Bandeira, Richard Jackson, Francjan van Spronsen, Anne Payne, Júlio César Rocha

Website

2019

The Effect of Glycomacropeptide versus Amino Acids on Phenylalanine and Tyrosine Variability over 24 Hours in Children with PKU: A Randomized Controlled Trial
Anne Daly, Sharon Evans, Satnam Chahal, Saikat Santra, Alex Pinto, Cerys Gingell, Júlio César Rocha, Francjan van Spronsen, Richard Jackson, Anita MacDonald

Website

Austria

Austria

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