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Journal of Inherited Metabolic Disease|December 9, 2024
Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disordersApolline Imbard, Hortense de Calbiac, Edouard Le Guillou, et al.Journal of Inherited Metabolic Disease|December 10, 2024
Executive and adaptive function impacts long-term outcomes for adults with maple syrup urine diseaseJessica I Gold, Alanna Strong, Nina B Gold, et al.Journal of Inherited Metabolic Disease|September 5, 2024
Intra- and extracellular real-time analysis of perfused fibroblasts using an NMR bioreactor: A pilot studyChristian Urzì, Christoph Meyer, Déborah Mathis, et al.Journal of Inherited Metabolic Disease|August 26, 2024
A 6-month randomized controlled trial for vitamin E supplementation in pediatric patients with Gaucher disease: Effect on oxidative stress, disease severity and hepatic complicationsAmira Abdel Moneam Adly, Eman Abdel Rahman Ismail, Fatma A Ibrahim, et al.Journal of Inherited Metabolic Disease|August 27, 2024
Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screeningElena Schnabel-Besson, Sven F Garbade, Florian Gleich, et al.Journal of Inherited Metabolic Disease|November 24, 2024
Human glyoxylate metabolism revisited: New insights pointing to multi-organ involvement with implications for siRNA-based therapies in primary hyperoxaluriaRonald J A Wanders, Jaap W Groothoff, Lisa J Deesker, et al.Journal of Inherited Metabolic Disease|July 8, 2024
New variants expand the neurological phenotype of COQ7 deficiencyMaría Alcázar Fabra, Abraham J Paredes-Fuentes, Manuel Torralba Carnerero, et al.Journal of Inherited Metabolic Disease|July 12, 2024
Newborn screening for acid sphingomyelinase deficiency in Illinois: A single center's experienceRachel E Hickey, Joshua BakerJournal of Inherited Metabolic Disease|August 6, 2024
Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2-CDG)Tara Weixel, Dee Adedipe, Glennis Muldoon, et al.Journal of Inherited Metabolic Disease|July 30, 2024
Long-term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type IIJi Hee Kwak, Yong Jun Choi, Sinae Kim, et al.Pageof 429