SOCIETY FOR THE STUDY
OF INBORN ERRORS OF METABOLISM

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

Website

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

Website

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

Website

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

Website

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

Website

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

Website

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

Website

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

Website

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

Website

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

Website

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Errors of Metabolism (SSIEM)
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