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Biochimica Et Biophysica Acta. Proteins and Proteomics|October 12, 2024
Ndufs4 knockout mice with isolated complex I deficiency engage a futile adaptive brain responseMelissa A E van de Wal, Cenna Doornbos, Janne M Bibbe, et al.Journal of Neuromuscular Diseases|October 9, 2023
SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial ReadinessKarlijn Bouman, Jan T Groothuis, Jonne Doorduin, et al.Neurology. Genetics|July 21, 2023
LAMA2-Related Muscular Dystrophy Across the Life Span: A Cross-sectional StudyKarlijn Bouman, Jan T Groothuis, Jonne Doorduin, et al.Molecular Genetics and Metabolism|March 13, 2022
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsyLaura A Tseng, Jose E Abdenur, Ashley Andrews, et al.Behavior Genetics|August 5, 2017
Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO StudyRianne Jahja, Francjan J van Spronsen, Leo M J de Sonneville, et al.Journal of Inherited Metabolic Disease|February 26, 2016
Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO studyRianne Jahja, Francjan J van Spronsen, Leo M J de Sonneville, et al.Molecular Genetics and Metabolism|November 5, 2013
Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO studyRianne Jahja, Stephan C J Huijbregts, Leo M J de Sonneville, et al.Molecular Genetics and Metabolism|July 16, 2018
The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO studyStephan C J Huijbregts, Annet M Bosch, Quirine A Simons, et al.Brain Communications|September 21, 2020
Deep phenotyping classical galactosemia: clinical outcomes and biochemical markersMendy M Welsink-Karssies, Sacha Ferdinandusse, Gert J Geurtsen, et al.Journal of Inherited Metabolic Disease|June 10, 2016
International Paediatric Mitochondrial Disease ScaleSaskia Koene, Jan C M Hendriks, Ilse Dirks, et al.Pageof 12