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Journal of Inherited Metabolic Disease|December 12, 2023
Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1 H HR-MAS NMRChristoph Meyer, Damian Hertig, Janine Arnold, et al.Journal of Inherited Metabolic Disease|February 15, 2024
Plasma lipidomics analysis reveals altered profile of triglycerides and phospholipids in children with Medium-Chain Acyl-CoA dehydrogenase deficiencyInês M S Guerra, Helena B Ferreira, Tatiana Maurício, et al.Journal of Inherited Metabolic Disease|May 13, 2024
Use of pure recombinant human enzymes to assess the disease-causing potential of missense mutations in urea cycle disorders, applied to N-acetylglutamate synthase deficiencyNadine Gougeard, Enea Sancho-Vaello, M Leonor Fernández-Murga, et al.Journal of Inherited Metabolic Disease|May 13, 2024
Clinical pharmacology considerations for first-in-human clinical trials for enzyme replacement therapySydney Stern, Jie Wang, Ruo-Jing Li, et al.Journal of Inherited Metabolic Disease|June 5, 2024
Quo vadis ureagenesis disorders? A journey from 90 years ago into the futureJohannes Häberle, Barbara Siri, Carlo Dionisi-ViciJournal of Inherited Metabolic Disease|May 25, 2024
International validation of meaningfulness of postural sway and gait to assess myeloneuropathy in adults with adrenoleukodystrophyHemmo A F Yska, Bela R Turk, Ali Fatemi, et al.Journal of Inherited Metabolic Disease|May 27, 2024
Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi-Bickel syndrome with empagliflozinRuben J Overduin, Sarah C Grünert, Martine T P Besouw, et al.Journal of Inherited Metabolic Disease|October 17, 2023
Datamining approaches for examining the low prevalence of N-acetylglutamate synthase deficiency and understanding transcriptional regulation of urea cycle genesLjubica Caldovic, Julie J Ahn, Jacklyn Andricovic, et al.Journal of Inherited Metabolic Disease|September 10, 2024
Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis IIJoseph Muenzer, Barbara K Burton, Paul Harmatz, et al.Journal of Inherited Metabolic Disease|June 5, 2023
Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension studyJerry Vockley, Barbara K Burton, Gerard Berry, et al.Pageof 429