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Journal of Inherited Metabolic Disease|April 23, 2003
Second case of a successful pregnancy in maternal isovaleric acidaemiaS Spinty, H Rogozinski, G T Lealman, et al.Journal of Inherited Metabolic Disease|November 7, 2019
Inborn errors of metabolite repairMaria Veiga-da-Cunha, Emile Van Schaftingen, Guido T BommerJournal of Inherited Metabolic Disease|January 26, 2019
Choline-related-inherited metabolic diseases-A mini reviewSaskia B Wortmann, Johannes A MayrJournal of Inherited Metabolic Disease|February 1, 2019
Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defectDilek Yalnızoǧlu, R Köksal Özgül, Kader K Oǧuz, et al.Journal of Inherited Metabolic Disease|November 12, 2019
Whole-body magnetic resonance imaging in late-onset Pompe disease: Clinical utility and correlation with functional measuresAleena A Khan, Tracy Boggs, Michael Bowling, et al.Journal of Inherited Metabolic Disease|February 7, 2019
Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics eraRonald J A Wanders, Frederic M Vaz, Sacha Ferdinandusse, et al.Journal of Inherited Metabolic Disease|February 7, 2019
Hepatic glutamine synthetase augmentation enhances ammonia detoxificationLeandro R Soria, Matthew Nitzahn, Angela De Angelis, et al.Journal of Inherited Metabolic Disease|February 12, 2019
Newborn screening for homocystinurias: Recent recommendations versus current practiceRebecca Keller, Petr Chrastina, Markéta Pavlíková, et al.Journal of Inherited Metabolic Disease|February 12, 2019
Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD)Jerry Vockley, Barbara Burton, Gerard T Berry, et al.Journal of Inherited Metabolic Disease|February 12, 2019
Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyriaBrenden Chen, Constanza Solis-Villa, Angelika L Erwin, et al.Pageof 429