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JIMD Reports|November 7, 2025
Severe Neurological Presentation in Siblings With COQ5-Related Primary Coenzyme Q10 Deficiency: Expanding Clinical and Molecular SpectrumParith Wongkittichote, Rachel M Guerra, Daniel J Wegner, et al.JIMD Reports|August 13, 2025
Efficacy of Switching Therapy From Alglucosidase Alfa to Avalglucosidase Alfa on Respiratory Function in Participants With Late-Onset Pompe Disease: A Post Hoc Analysis From the COMET TrialPriya S Kishnani, Matthias Boentert, Stephan Wenninger, et al.JIMD Reports|August 13, 2025
The Utility of High-Sensitivity Troponin to Detect Cardiomyopathy in Patients With Fabry DiseaseSubadra Wanninayake, Tejas Kalaria, Antonio Ochoa-Ferraro, et al.JIMD Reports|July 27, 2014
Antiepileptic medications increase osteoporosis risk in male fabry patients: bone mineral density in an Australian cohortAndrew Talbot, Joanna R Ghali, Kathy NichollsJIMD Reports|September 5, 2013
No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome-Like Patients Negative for SLC2A1 and in Patients with AHC Negative for ATP1A3C Le Bizec, S Nicole, E Panagiotakaki, et al.JIMD Reports|April 23, 2013
A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth SyndromeYuxin Fan, Jon Steller, Iris L Gonzalez, et al.JIMD Reports|April 17, 2013
A Clinically Severe Variant of β-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of HydrocephalusA Broomfield, R Gunny, I Ali, et al.JIMD Reports|April 3, 2013
Motor and speech disorders in classic galactosemiaNancy L Potter, Yves Nievergelt, Lawrence D ShribergJIMD Reports|April 3, 2013
Early cardiac changes in children with anderson-fabry diseaseStepan Havranek, Ales Linhart, Zuzana Urbanova, et al.JIMD Reports|February 23, 2013
Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe DiseaseMónica Yasmín Niño, Heidi Eliana Mateus, Dora Janeth Fonseca, et al.Pageof 128