Aachen papers per year
Papers 18
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Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers2020 Molecular Genetics and Metabolism article Medicine Lysosomal Storage Disorders Research Open access
Eline C. B. Eskes, Barbara Sjouke, Frédéric Maxime Vaz, Susan M. I. Goorden, André B. P. Kuilenburg, Johannes M. F. G. Aerts, +1 more
39citations -
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 -
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 -
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 -
Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes2022 Molecular Genetics and Metabolism article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Alejandro Garanto, Carlos R. Ferreira, Camiel J. F. Boon, Clara D.M. van Karnebeek, Nenad Blau
12citations -
Glycoprotein non-metastatic protein B (GPNMB) plasma values in patients with chronic visceral acid sphingomyelinase deficiency2023 Molecular Genetics and Metabolism article Medicine Lysosomal Storage Disorders Research Open access cited by 1 patent
Eline C. B. Eskes, Martijn J. C. van der Lienden, Barbara Sjouke, Marion M. M. G. Brands, Carla E. M. Hollak, Johannes M. F. G. Aerts
7citations -
Recent developments in the analytical approaches of acyl-CoAs to assess their role in mitochondrial fatty acid oxidation disorders2023 Molecular Genetics and Metabolism article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Madhulika Singh, Hyung Lim Elfrink, Amy C. Harms, Thomas Hankemeier
7citations -
Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries2021 Molecular Genetics and Metabolism article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Roeland A. F. Evers, Annemiek M. J. van Wegberg, Kirsten Ahring, Skadi Beblo, Amaya Bélanger-Quintana, Annet M. Bosch, +15 more
4citations -
Meta-analysis of cognitive outcomes in children and adults with early treated phenylketonuria – Results across functions2025 Molecular Genetics and Metabolism review Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Cristina Romani, Stephan C. J. Huijbregts, Francjan J. van Spronsen, Anita MacDonald, Annemiek M. J. van Wegberg, Andrew Olson
4citations -
Inter-individuality in the transport and effect of phenylalanine in the brain: A double case report of two ‘unusual’ phenylketonuria patients2025 Molecular Genetics and Metabolism article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
E.M. van Steenis, Stephan C. J. Huijbregts, D Draaisma-van Vliet, Margaretha Rebecca Heiner-Fokkema, Alexander J. M. Rennings, Paul Baron, +2 more
3citations -
Two new cases of KYNU deficiency: Further delineation of the phenotypic and biochemical spectrum and exploration of treatment options2025 Molecular Genetics and Metabolism article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Susanna M. I. Goorden, Désirée Y. van Haaften–Visser, Maria M. Trętowicz, Ramon Bonte, Elly Bogaerts, Sandrien Vrieswijk, +9 more
2citations -
Agreement between the Amsterdam Neuropsychological Tasks and the Cambridge Neuropsychological Test Automated Battery in the assessment of PKU patients and healthy controls2025 Molecular Genetics and Metabolism article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
E.M. van Steenis, Stephan C. J. Huijbregts, Cristina Romani, Ninke van Vliet, Allysa M. Dijkstra, M. Estela Rubio‐Gozalbo, +4 more
1citations -
Riboflavin transporter deficiency unmasked by dietary changes2024 Molecular Genetics and Metabolism article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders
Annet M. Bosch, Bregje Jaeger, Mirjam Langeveld, Robert Brunkhorst, Felix Disterlmaier, Nicole I. Wolf
0citations -
Progressive short stature in Pearson syndrome and the impact of organ failure2026 Molecular Genetics and Metabolism article Biochemistry, Genetics and Molecular Biology Mitochondrial Function and Pathology Open access
Ayami Yoshimi, Holger Cario, Kirsten Timmermann, Udo Kontny, Stephan Lobitz, Helen S. Odenthal, +10 more
0citations -
Lyso−Gb is not a predictive biomarker of treatment response in migalastat-treated patients with migalastat-amenable variants2020 Molecular Genetics and Metabolism article Medicine Lysosomal Storage Disorders Research Open access
Raphael Schiffmann, Daniel Georges Bichet, Johannes M. F. G. Aerts, Nina Skuban, Atul B Mehta
0citations
18 results
Most active Aachen authors
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Stephan C. J. Huijbregts 5,598 citations overall6 papers
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Johannes M. F. G. Aerts 29,390 citations overall5 papers
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Camiel J. F. Boon 13,468 citations overall2 papers
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Jörg Bernhard Schulz 44,963 citations overall1 paper
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Thomas Hankemeier 29,177 citations overall1 paper
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Udo Kontny 7,268 citations overall1 paper
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Gijs W.E. Santen 7,222 citations overall1 paper
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Amy C. Harms 7,193 citations overall1 paper
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Mariëtte J.V. Hoffer 3,199 citations overall1 paper
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Regina Bökenkamp 2,610 citations overall1 paper
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Burkhard Gess 1,764 citations overall1 paper
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Maria J. Ferraz 1,620 citations overall1 paper
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Robert Brunkhorst 1,099 citations overall1 paper
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Maike Franziska Dohrn 995 citations overall1 paper
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Roel L.F. van der Palen 926 citations overall1 paper