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Molecular Genetics and Metabolism|January 10, 2017
Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypesLindsey Welling, Anita Boelen, Terry G J Derks, et al.Journal of Visualized Experiments : Jove|April 15, 2024
A Murine Model of Hyperlipidemia-Induced Heart Failure with Preserved Ejection FractionMonique Williams, Ali Kamiar, Jose Manuel Condor Capcha, et al.JIMD Reports|February 20, 2020
Neurotoxicity including posterior reversible encephalopathy syndrome after initiation of calcineurin inhibitors in transplanted methylmalonic acidemia patients: Two case reports and review of the literatureFemke Molema, Monique Williams, Janneke Langendonk, et al.Molecular Genetics and Metabolism|March 5, 2019
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatmentFemke Molema, Florian Gleich, Peter Burgard, et al.Metabolites|November 30, 2019
Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS PlatformRamon Bonte, Michiel Bongaerts, Serwet Demirdas, et al.Molecular Genetics & Genomic Medicine|April 1, 2017
A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylationPatrick R Blackburn, Monique Williams, Margot A Cousin, et al.Journal of Inherited Metabolic Disease|February 9, 2019
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registryFemke Molema, Florian Gleich, Peter Burgard, et al.Nucleic Acids Research|September 22, 2018
Highly efficient genome editing via CRISPR-Cas9 in human pluripotent stem cells is achieved by transient BCL-XL overexpressionXiao-Lan Li, Guo-Hua Li, Juan Fu, et al.Molecular Cancer Research : MCR|April 27, 2017
Combined AURKA and H3K9 Methyltransferase Targeting Inhibits Cell Growth By Inducing Mitotic CatastropheAngela Mathison, Ann Salmonson, Mckenna Missfeldt, et al.Journal of Inherited Metabolic Disease|April 12, 2017
Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic controlFabian Peeks, Thomas A H Steunenberg, Foekje de Boer, et al.Pageof 17