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Papers per year
Papers 63
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PKU dietary handbook to accompany PKU guidelines2020 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Anita MacDonald, Annemiek M. J. van Wegberg, Kirsten Ahring, Skadi Beblo, Amaya Bélanger-Quintana, Alberto Burlina, +11 more
258citations -
European Guidelines on Diagnosis and Treatment of Phenylketonuria: First Revision2025 Springer eBooks book-chapter Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Annemiek M. J. van Wegberg, Anita MacDonald, Kirsten Ahring, Amaya Bélanger-Quintana, Skadi Beblo, Nenad Blau, +12 more
97citations -
Meta-analyses of cognitive functions in early-treated adults with phenylketonuria2022 Neuroscience & Biobehavioral Reviews article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Cristina Romani, Andrew Olson, Lynne Aitkenhead, Dhanesha Patel, Francjan J. van Spronsen, Anita MacDonald, +2 more
45citations -
Disturbed brain ether lipid metabolism and histology in Sjögren‐Larsson syndrome2020 Journal of Inherited Metabolic Disease article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Pippa Staps, William B. Rizzo, Frédéric Maxime Vaz, Marianna Bugiani, Martin A. Giera, Bram Heijs, +10 more
39citations -
Towards Achieving Equity and Innovation in Newborn Screening across Europe2022 International Journal of Neonatal Screening article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Jaka Šikonja, Urh Grošelj, Maurizio Scarpa, Giancarlo la Marca, David Cheillan, Stefan Kölker, +11 more
39citations -
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia2021 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Zheng Yie Yap, Stéphanie Efthymiou, Simone Seiffert, Karen Vargas Parra, Sukyeong Lee, Alessia Nasca, +34 more
34citations -
Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach2022 Molecular Genetics and Metabolism article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Barbara K. Burton, Alvaro Hermida Ameijeiras, Amaya Bélanger-Quintana, Heather Bell, Kendra Bjoraker, Shawn E. Christ, +15 more
31citations -
Expanding Neonatal Bloodspot Screening: A Multi-Stakeholder Perspective2021 Frontiers in Pediatrics article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Tessa van Dijk, Adriana Kater, Marleen Elizabeth Jansen, Wybo Dondorp, Maartje Blom, Stephan Kemp, +4 more
29citations -
Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review2023 International Journal of Molecular Sciences review Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Federica Conte, Juda-El S. Jno Baptiste - Sam, Dirk J. Lefeber, Robert C. J. J. Passier
26citations -
A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR)2021 Molecular Genetics and Metabolism article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access cited by 1 patent
Berith M. Balfoort, Mark J. Buijs, Anneloor L.M.A. ten Asbroek, Arthur A B Bergen, Camiel J. F. Boon, Elise A. Ferreira, +7 more
26citations -
The clinical relevance of novel biomarkers as outcome parameter in adults with phenylketonuria2024 Journal of Inherited Metabolic Disease article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Annemiek M. J. van Wegberg, Janneke C. van der Weerd, Udo F. H. Engelke, Karlien L. M. Coene, Rianne Jahja, Stephan J. L. Bakker, +4 more
22citations -
Correlations of blood and brain biochemistry in phenylketonuria: Results from the Pah-enu2 PKU mouse2021 Molecular Genetics and Metabolism article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Allysa M. Dijkstra, Ninke van Vliet, Danique van Vliet, Cristina Romani, Stephan C. J. Huijbregts, Els van der Goot, +5 more
20citations -
The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective2021 Genes article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Xuan‐Thanh‐An Nguyen, Hind Almushattat, Ine Strubbe, Michalis Georgiou, Catherina H. Z. Li, Mary J. van Schooneveld, +8 more
17citations -
Dietary Liberalization in Tetrahydrobiopterin-Treated PKU Patients: Does It Improve Outcomes?2022 Nutrients article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Roeland A. F. Evers, Annemiek M. J. van Wegberg, Anita MacDonald, Stephan C. J. Huijbregts, Vincenzo Leuzzi, Francjan J. van Spronsen
17citations -
Metabolic control during the neonatal period in phenylketonuria: associations with childhood IQ2021 Pediatric Research article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Geertje B. Liemburg, Stephan C. J. Huijbregts, Frank Rutsch, Reinhold Feldmann, Rianne Jahja, J. Weglage, +3 more
16citations -
Fibroblast‐specific genome‐scale modelling predicts an imbalance in amino acid metabolism in Refsum disease2020 FEBS Journal article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Agnieszka B. Wegrzyn, Katharina Herzog, Albert Gerding, Marcel Kwiatkowski, Justina Clarinda Wolters, Amalia M. Dolga, +4 more
15citations -
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity2023 Genome Medicine article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Sheng‐Jia Lin, Barbara Vona, Tracy Lau, Kevin Huang, Maha Saad Zaki, Huda Shujaa Aldeen, +31 more
14citations -
Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature2020 Journal of Child Neurology article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Marieke G. Peetsold, Susan M. I. Goorden, Martijn H. Breuning, Monique Williams, Jaap Adriaan Bakker, Ed H. Jacobs, +2 more
14citations -
Correction to: PKU dietary handbook to accompany PKU guidelines2020 Orphanet Journal of Rare Diseases erratum Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Anita MacDonald, Annemiek M. J. van Wegberg, Kirsten Ahring, Skadi Beblo, Amaya Bélanger-Quintana, Alberto Burlina, +11 more
14citations -
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway2022 Journal of Inherited Metabolic Disease article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Kimber van Vliet, Willem G. van Ginkel, Rianne Jahja, Anne Daly, Anita MacDonald, Saikat Santra, +29 more
13citations
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