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JIMD Reports|May 11, 2026
Progressive White Matter Changes in Mitochondrial Disease: A Quantitative MRI StudyNora Mickelsson, Jussi Hirvonen, Mika H Martikainen
JIMD Reports|February 3, 2026
Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase DeficiencySharmila Kiss, Richard J Leventer, Cormac Duff, et al.
JIMD Reports|June 10, 2026
Expanding the MRPS34 Genotype-Phenotype Correlation: Two Novel Cases and a Cohort ReviewAlberte Aspaas Lundquist, Sumit Parikh, Thomas van Overeem Hansen, et al.
JIMD Reports|April 27, 2026
Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid ProteomicsLiana N Semcesen, Megan Ball, Daniella H Hock, et al.
JIMD Reports|June 8, 2026
Patient Preferences in Neuromuscular Diseases: Insights for Future Drug DevelopmentAura Cecilia Jimenez-Moreno, Alasdair Blain, Cathy Anne Pinto, et al.
JIMD Reports|January 29, 2017
Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase DeficiencyKathryn E Coakley, Eric I Felner, Vin Tangpricha, et al.
JIMD Reports|June 17, 2026
Long-Term Efficacy and Safety of Glycerol Phenylbutyrate in Japanese Patients With Urea Cycle Disorders: Results From a Phase 3 Switch-Over and 12-Month Extension StudyYoichi Wada, Mahoko Furujo, Kenichi Kashimada, et al.
JIMD Reports|February 23, 2013
Nutritional Consequences of Adhering to a Low Phenylalanine Diet for Late-Treated Adults with PKU : Low Phe Diet for Adults with PKUIngrid Wiig, Kristina Motzfeldt, Elin Bjørge Løken, et al.
JIMD Reports|March 4, 2015
Diet History Is a Reliable Predictor of Suboptimal Docosahexaenoic Acid Levels in Adult Patients with PhenylketonuriaT Bosdet, J Branov, C Selvage, et al.
JIMD Reports|July 5, 2023
Plasma calprotectin is extremely high in patients with lysinuric protein intoleranceMari Kärki, Laura Tanner, Satu Lahtinen, et al.
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