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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|July 5, 2023
Plasma calprotectin is extremely high in patients with lysinuric protein intoleranceMari Kärki, Laura Tanner, Satu Lahtinen, 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|February 20, 2020
Quantitative amino acid analysis by liquid chromatography-tandem mass spectrometry using low cost derivatization and an automated liquid handlerWilliam S Phipps, Eric Crossley, Richard Boriack, et al.
JIMD Reports|March 14, 2022
Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophyFrancyne Kubaski, Zackary M Herbst, Maira Graeff Burin, et al.
JIMD Reports|June 22, 2026
Longitudinal Changes in Glutamine and Ammonia in Relation to Hyperammonemic Crisis in Urea Cycle DisordersYasuaki Yasuda, Yoko Nakajima, Yuta Sudo, et al.
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