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Journal of Inherited Metabolic Disease|April 26, 2019
Limited data to evaluate real-world effectiveness of enzyme replacement therapy for mucopolysaccharidosis type IGé-Ann Kuiper, Stephanie C M Nijmeijer, Manouck J M Roelofs, 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.Journal of Inherited Metabolic Disease|April 11, 2019
Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari populationNader Al-Dewik, Alaa Ali, Yassmin Mahmoud, et al.Journal of Inherited Metabolic Disease|October 16, 2021
Interplay between cardiolipin and plasmalogens in Barth syndromeJosé Carlos Bozelli, Richard M EpandJournal of Inherited Metabolic Disease|January 23, 2022
No effect of resveratrol on fatty acid oxidation or exercise capacity in patients with fatty acid oxidation disorders: A randomized clinical cross-over trialJesper H Storgaard, Nicoline Løkken, Karen L Madsen, et al.Journal of Inherited Metabolic Disease|January 25, 2022
Medium branched chain fatty acids improve the profile of tricarboxylic acid cycle intermediates in mitochondrial fatty acid β-oxidation deficient cells: A comparative studyAnuradha Karunanidhi, Clinton Van't Land, Dhivyaa Rajasundaram, et al.Journal of Inherited Metabolic Disease|April 23, 2022
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiencyMathilde Yverneau, Stéphanie Leroux, Apolline Imbard, et al.Journal of Inherited Metabolic Disease|September 9, 2018
The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD)Julia Hesse, Carina Braun, Sidney Behringer, et al.Journal of Inherited Metabolic Disease|June 10, 2019
AMP-activated protein kinase signaling regulated expression of urea cycle enzymes in response to changes in dietary protein intakeSandra K Heibel, Peter J McGuire, Nantaporn Haskins, et al.Journal of Inherited Metabolic Disease|January 1, 1987
Morphological observations in skeletal muscle from patients with a mitochondrial myopathyA M Stadhouders, R C SengersPageof 429