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Orphanet Journal of Rare Diseases|May 29, 2012
Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort studyCatharina M L Touw, G Peter A Smit, Maaike de Vries, et al.
Molecular Systems Biology|September 27, 2022
Systematic multi-level analysis of an organelle proteome reveals new peroxisomal functionsEden Yifrach, Duncan Holbrook-Smith, Jérôme Bürgi, et al.
Nature Communications|May 4, 2018
Systematic mapping of contact sites reveals tethers and a function for the peroxisome-mitochondria contactNadav Shai, Eden Yifrach, Carlo W T van Roermund, et al.
Acta Ophthalmologica|April 7, 2025
Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?Mark J N Buijs, Berith M Balfoort, Marion M Brands, et al.
International Journal of Molecular Sciences|April 12, 2020
Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation IntermediatesSuzan J G Knottnerus, Isabella Mengarelli, Rob C I Wüst, et al.
American Journal of Medical Genetics. Part A|February 2, 2018
Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variantDaniel J Pomerantz, Sacha Ferdinandusse, Joy Cogan, et al.
JIMD Reports|December 26, 2024
Development of the Dutch translational knowledge agenda for inherited metabolic diseasesI J Hieltjes, J H van der Lee, M C Groenendijk, et al.
Molecular Genetics and Metabolism Reports|July 5, 2022
Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiographyAnnemarijne R J Veenvliet, Mark R Garrelfs, Floris E A Udink Ten Cate, et al.
Journal of Inherited Metabolic Disease|January 20, 2020
Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiencyJeannette C Bleeker, Gepke Visser, Kieran Clarke, et al.
Nature Medicine|May 13, 2014
Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologiesGang Wang, Megan L McCain, Luhan Yang, et al.
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