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Molecular Genetics and Metabolism|March 31, 2019
Direct-infusion based metabolomics unveils biochemical profiles of inborn errors of metabolism in cerebrospinal fluidHanneke A Haijes, Maria van der Ham, Johan Gerrits, et al.
Brain : a Journal of Neurology|August 16, 2021
Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophyShanice Beerepoot, Hans Heijst, Birthe Roos, et al.
Molecular Pharmaceutics|August 1, 2018
Influence of PEGylation of Vitamin-K-Loaded Mixed Micelles on the Uptake by and Transport through Caco-2 CellsFeilong Sun, Max Adrian, Nataliia Beztsinna, et al.
International Journal of Molecular Sciences|February 7, 2020
Untargeted Metabolomics for Metabolic Diagnostic Screening with Automated Data Interpretation Using a Knowledge-Based AlgorithmHanneke A Haijes, Maria van der Ham, Hubertus C M T Prinsen, et al.
JIMD Reports|May 8, 2023
A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsyLynne Rumping, Petra J W Pouwels, Nicole I Wolf, et al.
JIMD Reports|February 27, 2016
A New Approach for Fast Metabolic Diagnostics in CMAMMAMonique G M de Sain-van der Velden, Maria van der Ham, Judith J Jans, et al.
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation|February 25, 2015
Hematopoietic cell transplantation for mucopolysaccharidosis patients is safe and effective: results after implementation of international guidelinesMieke Aldenhoven, Simon A Jones, Denise Bonney, et al.
Blood Advances|January 4, 2018
Quality of life of Hurler syndrome patients after successful hematopoietic stem cell transplantationMieke Aldenhoven, Brigitte T A van den Broek, Robert F Wynn, et al.
JIMD Reports|July 21, 2020
Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severityWillemijn F E Kuper, Marlies Oostendorp, Brigitte T A van den Broek, et al.
European Journal of Pediatrics|September 8, 2006
Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutationsMaaike C de Vries, Richard J Rodenburg, Eva Morava, et al.
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