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Journal of Inherited Metabolic Disease|March 19, 2020
Impact of enteral arginine supplementation on lysine metabolism in humans: A proof-of-concept for lysine-related inborn errors of metabolismZoe Schmidt, Gayathri Murthy, Madeleine Ennis, et al.Journal of Inherited Metabolic Disease|March 12, 2020
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh diseaseMarisa W Friederich, Abdallah F Elias, Alice Kuster, et al.Journal of Inherited Metabolic Disease|September 23, 2020
A new diagnostic indication device of a biomarker growth differentiation factor 15 for mitochondrial diseases: From laboratory to automated inspectionYasutoshi Koga, Nataliya Povalko, Eisuke Inoue, et al.Journal of Inherited Metabolic Disease|September 18, 2020
Developments in evidence creation for treatments of inborn errors of metabolismSylvia Stockler-Ipsiroglu, Beth K Potter, Nataliya Yuskiv, et al.Journal of Inherited Metabolic Disease|December 28, 2020
The nucleotide prodrug CERC-913 improves mtDNA content in primary hepatocytes from DGUOK-deficient ratsMark A Vanden Avond, Hui Meng, Margaret J Beatka, et al.Journal of Inherited Metabolic Disease|December 14, 2020
Characterising the arthroplasty in spondyloarthropathy in a large cohort of eighty-seven patients with alkaptonuriaLakshminarayan R Ranganath, James A Gallagher, John Davidson, et al.Journal of Inherited Metabolic Disease|December 10, 2020
Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of IrelandDaniel O'Reilly, Ellen Crushell, Joanne Hughes, et al.Journal of Inherited Metabolic Disease|December 9, 2020
Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosisViktor Kožich, Jitka Sokolová, Andrew A M Morris, et al.Journal of Inherited Metabolic Disease|January 15, 2021
Cardiac tissue citric acid cycle intermediates in exercised very long-chain acyl-CoA dehydrogenase-deficient mice fed triheptanoin or medium-chain triglycerideGaren Gaston, Jon A Gangoiti, Shelley Winn, et al.Journal of Inherited Metabolic Disease|December 15, 2021
Oral treatment for mucopolysaccharidosis VI: Outcomes of the first phase IIa study with odiparcilNathalie Guffon, Pratima Chowdary, Elisa Leão Teles, et al.Pageof 429