Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity

Autor: Alex Pinto, Kirsten Ahring, Manuela Ferreira Almeida, Catherine Ashmore, Amaya Bélanger-Quintana, Alberto Burlina, Turgay Coşkun, Anne Daly, Esther van Dam, Ali Dursun, Sharon Evans, François Feillet, Maria Giżewska, Hulya Gökmen-Özel, Mary Hickson, Yteke Hoekstra, Fatma Ilgaz, Richard Jackson, Alicja Leśniak, Christian Loro, Katarzyna Malicka, Michał Patalan, Júlio César Rocha, Serap Sivri, Iris Rodenburg, Francjan van Spronsen, Kamilla Strączek, Ayşegül Tokatli, Anita MacDonald

Publikováno v: Nutrients, Vol 16, Iss 17, p 2909 (2024)

In phenylketonuria (PKU), natural protein intake is thought to increase with age, particularly during childhood and adolescence. Longitudinal dietary intake data are scarce and lifelong phenylalanine tolerance remains unknown. Nine centres managing P

Externí odkaz: https://doaj.org/article/8b417410d48748b998fa50b2715ab8ac

Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy

Autor: Gea Kiewiet, Dineke Westra, Eddy N. de Boer, Emma van Berkel, Tom G. J. Hofste, Martine van Zweeden, Ronny C. Derks, Nico F. A. Leijsten, Martina H. A. Ruiterkamp-Versteeg, Bart Charbon, Lennart Johansson, Janneke Bos-Kruizinga, Inge J. Veenstra, Monique G. M. de Sain-van der Velden, Els Voorhoeve, M. Rebecca Heiner-Fokkema, Francjan van Spronsen, Birgit Sikkema-Raddatz, Marcel Nelen

Publikováno v: International Journal of Neonatal Screening, Vol 10, Iss 1, p 20 (2024)

In this study, we compare next-generation sequencing (NGS) approaches (targeted panel (tNGS), whole exome sequencing (WES), and whole genome sequencing (WGS)) for application in newborn screening (NBS). DNA was extracted from dried blood spots (DBS)

Externí odkaz: https://doaj.org/article/693ce665f4784d2c83d6224c090b19b6

The Effect of Glycomacropeptide versus Amino Acids on Phenylalanine and Tyrosine Variability over 24 Hours in Children with PKU: A Randomized Controlled Trial

Autor: Anne Daly, Sharon Evans, Satnam Chahal, Saikat Santra, Alex Pinto, Cerys Gingell, Júlio César Rocha, Francjan van Spronsen, Richard Jackson, Anita MacDonald

Publikováno v: Nutrients, Vol 11, Iss 3, p 520 (2019)

Introduction: In phenylketonuria (PKU), evidence suggests that casein glycomacropeptide supplemented with rate-limiting amino acids (CGMP-AA) is associated with better protein utilisation and less blood phenylalanine (Phe) variability. Aim: To study

Externí odkaz: https://doaj.org/article/da00a761021644ad90af5c57b62ece1b

Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation

Autor: Angel, Ashikov, Nurulamin, Abu Bakar, Xiao-Yan, Wen, Marco, Niemeijer, Glentino, Rodrigues Pinto Osorio, Koroboshka, Brand-Arzamendi, Linda, Hasadsri, Hana, Hansikova, Kimiyo, Raymond, Dorothée, Vicogne, Nina, Ondruskova, Marleen E H, Simon, Rolph, Pfundt, Sharita, Timal, Roel, Beumers, Christophe, Biot, Roel, Smeets, Marjan, Kersten, Karin, Huijben, Peter T A, Linders, Geert, van den Bogaart, Sacha A F T, van Hijum, Richard, Rodenburg, Lambertus P, van den Heuvel, Francjan, van Spronsen, Tomas, Honzik, Francois, Foulquier, Monique, van Scherpenzeel, Dirk J, Lefeber, Wamelink, Mirjam, Brunner, Han, Mundy, Helen, Michelakakis, Helen, van Hasselt, Peter, van de Kamp, Jiddeke, Martinelli, Diego, Morkrid, Lars, Brocke Holmefjord, Katja, Hertecant, Jozef, Alfadhel, Majid, Carpenter, Kevin, Te Water Naude, Johann

Publikováno v: CDG group 2018, ' Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation ', Human Molecular Genetics, vol. 27, no. 17, pp. 3029-3045 . https://doi.org/10.1093/hmg/ddy213
Human Molecular Genetics, 27(17), 3029-3045. Oxford University Press
Human Molecular Genetics, 27, 3029-3045
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2018, 27 (17), pp.3029-3045. ⟨10.1093/hmg/ddy213⟩
Human Molecular Genetics, 27(17), 3029. Oxford University Press
Human Molecular Genetics, 27, 17, pp. 3029-3045
Human Molecular Genetics, 2018, 27 (17), pp.3029-3045. ⟨10.1093/hmg/ddy213⟩

Genomics methodologies have significantly improved elucidation of Mendelian disorders. The combination with high-throughput functional-omics technologies potentiates the identification and confirmation of causative genetic variants, especially in sin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e709730c784b1fbb4d2aab2a8939fd5a
https://research.rug.nl/en/publications/f2f95986-9727-4cad-968f-2627eb4a6a0e

Tyrosinemia

Autor: Francjan van Spronsen, Margreet van Rijn

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c1a3e9687ac15a1124b766d778a20dfe
https://doi.org/10.1093/acprof:oso/9780199398911.003.0040