Publications of interest to dietitians
2020
A 3 year longitudinal prospective review examining the dietary profile and contribution made by special low protein food to energy and macronutrient intake in children with phenylketonuria
Anne Daly, Sharon Evans, Alex Pinto, Catherine Ashmore, Júlio César Rocha, Anita MacDonald
2020
Special Low Protein Foods in the UK: An Examination of Their Macronutrient Composition in Comparison to Regular Foods
Georgina Wood, Sharon Evans, Kiri Pointon-Bell, Júlio César Rocha, Anita MacDonald
2020
PKU dietary handbook to accompany PKU guidelines
Anita MacDonald, Annemiek J van Wegberg, Kirsten Ahring, Skadi Beblo, Amaya Bélanger-Quintana, Alberto Burlina, Jaume Campistol, Turgay Coşkun, François Feillet, Maria Giżewska, Stephan Huijbregts, Vincenzo Leuzzi, Francois Maillot, Ania C Muntau, Júlio César Rocha, Cristina Romani, Fritz K Trefz, Francian J van Spronsen
2020
Reply to Jakovac; Severity of COVID-19 infection in patients with phenylketonuria: is vitamin D status protective?
Júlio César Rocha, Conceição Calhau, Anita MacDonald
2020
Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation
Claire Cannet , Andrea Pilotto, Júlio César Rocha, Hartmut Schäfer, Manfred Spraul, Daniela Berg, Peter Nawroth, Christian Kasperk, Gwendolyn Gramer, Dorothea Haas, David Piel, Stefan Kölker , Georg Hoffmann, Peter Freisinger, Friedrich Trefz
2020
Natural Protein Tolerance and Metabolic Control in Patients with Hereditary Tyrosinaemia Type 1
Ozlem Yilmaz, Anne Daly, Alex Pinto, Catherine Ashmore, Sharon Evans, Girish Gupte, Saikat Santra, Mary Anne Preece, Patrick Mckiernan, Steve Kitchen, Nurcan Yabanci Ayhan, Anita MacDonald
2020
Special Low Protein Foods in the UK: An Examination of Their Macronutrient Composition in Comparison to Regular Foods
Georgina Wood, Sharon Evans, Kiri Pointon-Bell, Júlio César Rocha, Anita MacDonald
2020
Dietary lipids in glycogen storage disease type III: a systematic literature study, case studies, and future recommendations
Alessandro Rossi, Irene J Hoogeveen, Vanessa B Bastek, Foekje de Boer, Chiara Montanari, Uta Meyer, Arianna Maiorana, Andrea Bordugo, Alice Dianin, Carmen Campana, Miriam Rigoldi, Priya S Kishnani, Surekha Pendyal, Pietro Strisciuglio, Serena Gasperini, Giancarlo Parenti, Rossella Parini, Sabrina Paci, Daniela Melis, Terry G J Derks
2020
Preliminary investigation to review if a glycomacropeptide compared to L-aminoacid protein substitute alters the pre- and postprandial amino acid profile in children with phenylketonuria
Anne Daly, Sharon Evans, Alex Pinto, Richard Jackson, Catherine Ashmore, Júlio César Rocha, Anita MacDonald
2020
The impact of the use of glycomacropeptide on satiety and dietary intake in phenylketonuria
Anne Daly, Sharon Evans, Alex Pinto, Richard Jackson, Catherine Ashmore, Júlio César Rocha, Anita MacDonald
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
2019
Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients
Kimber van Vliet, Willem G van Ginkel, Rianne Jahja, Anne Daly, Anita MacDonald, Corinne De Laet, Roshni Vara, Yusof Rahman, David Cassiman, Francois Eyskens, Corrie Timmer, Nicky Mumford, Jörgen Bierau, Peter M van Hasselt, Paul Gissen, Philippe J Goyens, Patrick J McKiernan, Gisela Wilcox, Andrew A M Morris, Elisabeth A Jameson, Stephan C J Huijbregts, Francjan J van Spronsen
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
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
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
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
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
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
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
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
2018
Weaning practices in phenylketonuria vary between health professionals in Europe. Mol Genet Metab Rep. 2018 Nov 25;18:39-44
Pinto A, Adams S, Ahring K, Allen H, Almeida MF, Garcia-Arenas D, et al.
2018
International practices in the dietary management of fructose 1-6 biphosphatase deficiency. Orphanet J Rare Dis. 2018 Jan 25;13(1):21
Pinto A, Alfadhel M, Akroyd R, Atik Altınok Y, Bernabei SM, Bernstein L, Bruni G, Caine G, Cameron E, Carruthers R, Cochrane B, Daly A, de Boer F, Delaunay S, Dianin A, Dixon M, Drogari E, Dubois S, Evans S, Gribben J, Gugelmo G, Heidenborg C, Hunjan I, Kok IL, Kumru B, Liguori A, Mayr D, Megdad E, Meyer U, Oliveira RB, Pal A, Pozzoli A, Pretese R, Rocha JC, Rosenbaum-Fabian S, Serrano-Nieto J, Sjoqvist E, Timmer C, White L, van den Hurk T, van Rijn M, Zweers H, Ziadlou M, MacDonald A
2018
Early feeding practices in infants with phenylketonuria across Europe. Mol Genet Metab Rep. 2018 Aug 8;16:82-89
Pinto A, Adams S, Ahring K, Allen H, Almeida MF, Garcia-Arenas D, et al.
2017
Dietary practices in propionic acidemia: A European survey. Mol Genet Metab Rep. 2017 Oct 3;13:83-89
Daly A, Pinto A, Evans S, Almeida MF, Assoun M, Belanger-Quintana A, et al.
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2017
Dietary practices in isovaleric acidemia: A European survey. Mol Genet Metab Rep. 2017 Feb 27;12:16-22
Pinto A, Daly A, Evans S, Almeida MF, Assoun M, Belanger-Quintana A, et al.
2016
Protein substitutes for phenylketonuria in Europe: access and nutritional composition. Eur J Clin Nutr. 2016 Jul;70(7):785-9
Pena MJ, de Almeida MF, van Dam E, Ahring K, B�langer-Quintana A, Dokoupil K, Gokmen-Ozel H, Lammardo AM, MacDonald A, Robert M, Rocha JC.
2015
Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach. Mol Genet Metab. 2015 May;115(1):17-22
Aguiar A, Ahring K, Almeida MF, Assoun M, Belanger Quintana A, Bigot S, et al.
2015
How strict is galactose restriction in adults with galactosaemia? International practice. Mol Genet Metab. 2015 May;115(1):23-6
Adam S, Akroyd R, Bernabei S, Bollhalder S, Boocock S, Burlina A, et al.