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Journal of Inherited Metabolic Disease|September 29, 2022
The role and control of arginine levels in arginase 1 deficiencyGeorge A Diaz, Mark Bechter, Stephen D CederbaumJournal of Inherited Metabolic Disease|September 18, 2022
Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort studyKoenraad Veys, Ward Zadora, Katharina Hohenfellner, et al.Journal of Inherited Metabolic Disease|September 9, 2022
Skin inflammation and impaired adipogenesis in a mouse model of acid ceramidase deficiencyJitka Rybova, Ladislav Kuchar, Jakub Sikora, et al.Journal of Inherited Metabolic Disease|September 7, 2022
EXPLORE B: A prospective, long-term natural history study of patients with acute hepatic porphyria with chronic symptomsDavid Cassiman, Raili Kauppinen, Susana Monroy, et al.Journal of Inherited Metabolic Disease|February 22, 2022
Priapism caused by partial deficiency of tetrahydrobiopterin through hypofunction of the sympathetic neurons in sepiapterin reductase gene-disrupted miceChiho Sumi-Ichinose, Yui Suganuma, Taiki Kano, et al.Journal of Inherited Metabolic Disease|February 26, 2022
Characterization of exonic variants of uncertain significance in very long-chain acyl-CoA dehydrogenase identified through newborn screeningOlivia M D'Annibale, Erik A Koppes, Meena Sethuraman, et al.Journal of Inherited Metabolic Disease|April 30, 2019
Maternal glutamine supplementation in murine succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolismMadalyn N Brown, Dana C Walters, Michelle A Schmidt, et al.Journal of Inherited Metabolic Disease|January 1, 1986
Galactosylcerebrosidase activity in tissues of twitcher mice with and without bone marrow transplantationM J Seller, K J Perkins, A H FensomJournal of Inherited Metabolic Disease|January 1, 1986
Tetrahydrobiopterin non-responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant proteinR G Cotton, I Jennings, G Bracco, et al.Journal of Inherited Metabolic Disease|May 17, 2019
CDG and immune response: From bedside to bench and backCarlota Pascoal, Rita Francisco, Tiago Ferro, et al.Pageof 429