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JIMD Reports|May 14, 2025
Atypical MEGDHEL Syndrome: A Milder Phenotype With Hepatic Presentation and Failure to Thrive Associated With a Homozygous Nonsense Variant of SERAC1Rita Marchante Pita, Raquel Amaral, Laura Vilarinho, et al.
JIMD Reports|May 14, 2025
Successful Pregnancy Management of a Woman With Severe Methylmalonic AcidemiaM Woidy, K Tsiakas, M Mahmud, et al.
JIMD Reports|May 8, 2025
Mental and Physical Health in Wilson Disease Patients With SARS-CoV-2 Infection and Relevance of Long-COVIDIsabelle Mohr, Maximilian Brand, Christophe Weber, et al.
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 Nicholls
JIMD 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.
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