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JIMD Reports|February 20, 2020
Administration of gamma-hydroxybutyrate instead of beta-hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a medication prescribing errorCaroline Tuchmann-Durand, Eloise Thevenet, Florence Moulin, et al.JIMD Reports|February 20, 2020
Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patientsHossein Moravej, Ruqaiah Altassan, Jaak Jaeken, et al.JIMD Reports|July 14, 2021
Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotypeSylvia Stockler-Ipsiroglu, Nahid Yazdanpanah, Mojgan Yazdanpanah, et al.JIMD Reports|July 14, 2021
Magnetic resonance imaging findings of the posterior fossa in 47 patients with mucopolysaccharidoses: A cross-sectional analysisRoberta Reichert, Juliano A Pérez, Amauri Dalla-Corte, et al.JIMD Reports|February 27, 2015
Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in CanadaMonica F Lamoureux, Kylie Tingley, Jonathan B Kronick, et al.JIMD Reports|February 28, 2015
Successful Pregnancy in a Woman with Maple Syrup Urine Disease: Case ReportStefanie Heiber, Henryk Zulewski, Marianne Zaugg, et al.JIMD Reports|March 4, 2015
Girls with Seizures Due to the c.320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard TestingBethanny Smith-Packard, Scott M Myers, Marc S WilliamsJIMD Reports|March 13, 2015
Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent SymptomsJoanne T Marsden, Simon Guppy, Penelope Stein, et al.JIMD Reports|March 13, 2015
Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic EncephalopathyAlina Levtova, Stephane Camuzeaux, Anne-Marie Laberge, et al.JIMD Reports|March 13, 2015
Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS)Hao-Chuan Liu, Amandine Perrin, Ting-Rong Hsu, et al.Pageof 127