Showing results (51-60 of 115) with videos related to
Sort By:
Pageof 12
Molecular Genetics and Metabolism|January 12, 2020
Does the 48-hour BH4 loading test miss responsive PKU patients?Annemiek M J van Wegberg, Roeland A F Evers, Esther van Dam, et al.Metabolomics : Official Journal of the Metabolomic Society|January 13, 2021
One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutationKarien Esterhuizen, J Zander Lindeque, Shayne Mason, et al.British Journal of Haematology|June 19, 2008
Serum hepcidin levels are innately low in HFE-related haemochromatosis but differ between C282Y-homozygotes with elevated and normal ferritin levelsBoukje A C van Dijk, Coby M M Laarakkers, Siem M Klaver, et al.Atherosclerosis|April 10, 2012
Asymmetric dimethylarginine in adults with cystathionine β-synthase deficiencyMonica S Rocha, Tom Teerlink, Mirian C H Janssen, et al.Journal of Neuromuscular Diseases|October 31, 2022
Bone Quality in Patients with a Congenital Myopathy: A Scoping ReviewKarlijn Bouman, Anne T M Dittrich, Jan T Groothuis, et al.The Journal of Pediatrics|February 4, 2018
A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 VariantFabian Baertling, Laura Sánchez-Caballero, Mariël A M van den Brand, et al.European Journal of Human Genetics : EJHG|December 13, 2012
Symptomatic lipid storage in carriers for the PNPLA2 geneMirian C H Janssen, Baziel van Engelen, Livia Kapusta, et al.Acta Neuropsychiatrica|January 5, 2024
Social cognition, emotion regulation and social competence in classical galactosemia patients without intellectual disabilityMerel E Hermans, Gert J Geurtsen, Carla E M Hollak, et al.JIMD Reports|May 14, 2015
Serum GDF15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain, but Not to Disease Progression in Adult m.3243A>G CarriersSaskia Koene, Paul de Laat, Doorlène H van Tienoven, et al.Frontiers in Immunology|May 23, 2022
Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of GlycosylationPaola de Haas, Marien I de Jonge, Hans J P M Koenen, et al.Pageof 12