Patient’s thoughts and expectations about centres of expertise for PKU

Autor: A. M. J. van Wegberg, A. MacDonald, D. Abeln, T. S. Hagedorn, E. Lange, F. Trefz, D. van Vliet, F. J. van Spronsen

Publikováno v: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)

Abstract Background In the Netherlands (NL) the government assigned 2 hospitals as centres of expertise (CE) for Phenylketonuria (PKU), while in the United Kingdom (UK) and Germany no centres are assigned specifically as PKU CE’s. Methods To identi

Externí odkaz: https://doaj.org/article/80ea178ef13847edae2b73f7ab61e429

Glycomacropeptide: long-term use and impact on blood phenylalanine, growth and nutritional status in children with PKU

Autor: A. Daly, S. Evans, S. Chahal, S. Santra, A. Pinto, R. Jackson, C. Gingell, J. Rocha, F. J. Van Spronsen, A. MacDonald

Publikováno v: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-12 (2019)

Abstract In phenylketonuria, casein glycomacropeptide (CGMP) requires modification with the addition of some essential and semi essential amino acids to ensure suitability as a protein substitute. The optimal amount and ratio of additional amino acid

Externí odkaz: https://doaj.org/article/e870212bff93442f911c99622862b70d

The increasing importance of LNAA supplementation in phenylketonuria at higher plasma phenylalanine concentrations

Autor: D, van Vliet, E, van der Goot, W G, van Ginkel, H J R, van Faassen, P, de Blaauw, I P, Kema, M R, Heiner-Fokkema, E A, van der Zee, F J, van Spronsen

Publikováno v: Molecular Genetics and Metabolism, 135(1), 27-34. ACADEMIC PRESS INC ELSEVIER SCIENCE

BACKGROUND: Large neutral amino acid (LNAA) treatment has been suggested as alternative to the burdensome severe phenylalanine-restricted diet. While its working mechanisms and optimal composition have recently been further elucidated, the question w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76446f6115993c84961683fdcf0cfb49
https://research.rug.nl/en/publications/bc2f5a62-40a6-43bc-8b7e-76c89d389338

High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome

Autor: A.T. van der Ploeg, Annet M. Bosch, Femke Molema, Judith J.M. Jans, Mirian C. H. Janssen, Martijn C. G. J. Brouwers, Dimitris Rizopoulos, Sabine A. Fuchs, Hanneke A. Haijes, Nanda M. Verhoeven-Duif, M.C. de Vries, Monique Williams, F. J. van Spronsen, Janneke G. Langendonk, P.M. van Hasselt, M. E. Rubio-Gozalbo, Margot F. Mulder, Margreet A E M Wagenmakers

Publikováno v: Clinical Nutrition, 40(5), 3622-3630. Churchill Livingstone
Clinical Nutrition, 40, 3622-3630
Clinical Nutrition, 40, 5, pp. 3622-3630
Clinical nutrition (Edinburgh, Scotland), 40(5), 3622-3630. Churchill Livingstone
Molema, F, Haijes, H A, Janssen, M C, Bosch, A M, van Spronsen, F J, Mulder, M F, Verhoeven-Duif, N M, Jans, J J M, van der Ploeg, A T, Wagenmakers, M A, Rubio-Gozalbo, M E, Brouwers, M C G J, de Vries, M C, Fuchs, S, Langendonk, J G, Rizopoulos, D, van Hasselt, P M & Williams, M 2021, ' High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome ', Clinical Nutrition, vol. 40, no. 5, pp. 3622-3630 . https://doi.org/10.1016/j.clnu.2020.12.027

Background and objective: Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inborn errors of metabolism. While survival of MMA and PA patients has improved in recent decades, long-term outcome is still unsatisfactory. A protein restricted

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c7707b9fbf36a7f8b9b343709220c73
https://doi.org/10.1016/j.clnu.2020.12.027

Defining tetrahydrobiopterin responsiveness in phenylketonuria

Autor: Amaya Belanger-Quintana, Turgay Coşkun, Shauna Kearney, F. K. Trefz, Júlio César Rocha, Ania C. Muntau, Jaime Campistol, Mirjam Langeveld, Maria Gizewska, François Maillot, Cristina Romani, K. Ahring, Alessandro P. Burlina, Vincenzo Leuzzi, Skadi Beblo, François Feillet, Stephan C. J. Huijbregts, Roeland A F Evers, Anita MacDonald, Annet M. Bosch, F. J. van Spronsen, A.M.J. van Wegberg

Publikováno v: Molecular genetics and metabolism, 132(4), 215-219. Academic Press Inc.
MOLECULAR GENETICS AND METABOLISM
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Molecular Genetics and Metabolism, 132(4), 215-219. ACADEMIC PRESS INC ELSEVIER SCIENCE

Background: A subset of patients with phenylketonuria benefit from treatment with tetrahydrobiopterin (BH4), although there is no consensus on the definition of BH4 responsiveness. The aim of this study therefore was to gain insight into the definiti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6861ebadf72d9b32a68bd46b172e2727
https://hdl.handle.net/1887/3264296