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Journal of Inherited Metabolic Disease|April 8, 2016
Mitochondrial dysfunction in liver failure requiring transplantationMaria Lane, Veronika Boczonadi, Sahar Bachtari, et al.Journal of Inherited Metabolic Disease|August 5, 2016
Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteineNatalia Gomez-Ospina, Anna I Scott, Gia J Oh, et al.Journal of Inherited Metabolic Disease|August 10, 2016
Large soft-tissue masses in an adult patient with Gaucher diseaseNeha Mahajan, Russell Brynes, Shoji YanoJournal of Inherited Metabolic Disease|July 30, 2016
Cholic acid therapy in Zellweger spectrum disordersKevin Berendse, Femke C C Klouwer, Bart G P Koot, et al.Journal of Inherited Metabolic Disease|February 6, 2025
The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians GroupMichel Tchan, Anna Lehman, Laura van Dussen, et al.Journal of Inherited Metabolic Disease|February 17, 2025
Amino Acid Metabolism and Immune Dysfunction in Urea Cycle Disorders: T and B Cell PerspectivesBetul Gemici Karaaslan, Ayca Kiykim, Nihan Burtecene, et al.Journal of Inherited Metabolic Disease|February 15, 2025
Reshaping the Treatment Landscape of a Galactose Metabolism DisorderM Estela Rubio-Gozalbo, E Naomi Vos, Isabel Rivera, et al.Journal of Inherited Metabolic Disease|January 8, 2025
The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!Bibiche den Hollander, Eva M M Hoytema van Konijnenburg, Brittany Hewitson, et al.Journal of Inherited Metabolic Disease|January 17, 2025
Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten DiseaseLottie D Morison, Ineka T Whiteman, Adam P Vogel, et al.Journal of Inherited Metabolic Disease|January 8, 2025
Progression of Spinal Cord Disease in Adult Men With AdrenoleukodystrophyHemmo A F Yska, Marije Voermans, Eda Kabak, et al.Pageof 429