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Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 4, 2015
Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiencyEugene F Diekman, Sacha Ferdinandusse, Ludo van der Pol, et al.Journal of Inherited Metabolic Disease|April 24, 2019
A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the NetherlandsEmmalie A Jager, Myrthe M Kuijpers, Annet M Bosch, et al.Clinical Nutrition (Edinburgh, Scotland)|September 19, 2020
Exploring the metabolic fate of medium-chain triglycerides in healthy individuals using a stable isotope tracerSuzan J G Knottnerus, Dewi van Harskamp, Henk Schierbeek, et al.Journal of Inherited Metabolic Disease|June 26, 2015
Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrateFatima Djouadi, Florence Habarou, Carole Le Bachelier, et al.JIMD Reports|January 31, 2018
Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12Monique G M de Sain-van der Velden, Willemijn F E Kuper, Marie-Anne Kuijper, et al.Journal of Medical Genetics|July 24, 2023
Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort studyLoek Crefcoeur, Sacha Ferdinandusse, Saskia N van der Crabben, et al.Journal of Inherited Metabolic Disease|February 12, 2019
Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiencyJeannette C Bleeker, Irene L Kok, Sacha Ferdinandusse, et al.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.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.The American Journal of Clinical Nutrition|May 9, 2014
Vitamin B-6 vitamers in human plasma and cerebrospinal fluidMonique Albersen, Marjolein Bosma, Jurjen J Luykx, et al.Pageof 9