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Journal of Inherited Metabolic Disease|September 15, 2020
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defectClaire-Marine Bérat, Sebastian Montealegre, Arnaud Wiedemann, et al.Journal of Inherited Metabolic Disease|January 23, 2019
Metabolic perturbations in classic galactosemia beyond the Leloir pathway: Insights from an untargeted metabolomic studyS Taylor Fischer, Allison B Frederick, ViLinh Tran, et al.Journal of Inherited Metabolic Disease|February 13, 2019
Pharmacokinetics, pharmacodynamics, and safety of moss-aGalactosidase A in patients with Fabry diseaseJulia B Hennermann, Laila Arash-Kaps, György Fekete, et al.Journal of Inherited Metabolic Disease|February 13, 2019
Biotin in metabolism, gene expression, and human diseaseAlfonso León-Del-RíoJournal of Inherited Metabolic Disease|December 21, 2013
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiencyJianying Xi, Bing Wen, Jie Lin, et al.Journal of Inherited Metabolic Disease|January 1, 1985
Cranial computerized tomography in dihydropteridine reductase deficiencyR Longhi, R Valsasina, C Buttè, et al.Journal of Inherited Metabolic Disease|March 15, 2021
Hand fine motor control in classic galactosemiaJessica MacWilliams, Sneh Patel, Grace Carlock, et al.Journal of Inherited Metabolic Disease|December 7, 2021
Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiencyHuafang Jiang, Ahmad Alahmad, Song Fu, et al.Journal of Inherited Metabolic Disease|March 19, 2021
Impaired Very-Low-Density Lipoprotein catabolism links hypoglycemia to hypertriglyceridemia in Glycogen Storage Disease type IaJoanne A Hoogerland, Fabian Peeks, Brenda S Hijmans, et al.Journal of Inherited Metabolic Disease|March 19, 2021
In a mouse model of INCL reduced S-palmitoylation of cytosolic thioesterase APT1 contributes to microglia proliferation and neuroinflammationTamal Sadhukhan, Maria B Bagh, Abhilash P Appu, et al.Pageof 429