2019
Prof Dr Med Johannes Haberle
Zurich, Switzerland
The impact of ammonia levels and dialysis on outcome in 202 patients with neonatal onset urea cycle disorders
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Epub 2018 Mar 8; 2018 Jul;41(4):689-698. doi: 10.1007/s10545-018-0157-4
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.
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
Special low protein foods for phenylketonuria: availability in Europe and an examination of their nutritional profile. Orphanet J Rare Dis. 2015 Dec 22;10:162
Pena MJ, 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.