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JIMD Reports|July 21, 2020
Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severityWillemijn F E Kuper, Marlies Oostendorp, Brigitte T A van den Broek, et al.JIMD Reports|May 8, 2023
Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial diseaseJessie Poquérusse, Melinda Nolan, David R Thorburn, et al.JIMD Reports|July 30, 2016
Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDsKatarzyna A Ellsworth, Laura M Pollard, Sara Cathey, et al.JIMD Reports|July 1, 2015
Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type IbDaniela Melis, Giorgia Minopoli, Francesca Balivo, et al.JIMD Reports|July 5, 2015
New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic AciduriaAshlee R Stiles, Leah Venturoni, Grace Mucci, et al.JIMD Reports|December 31, 2017
Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU PatientsV Hamilton, L Santa María, K Fuenzalida, et al.JIMD Reports|December 18, 2017
Mitochondrial Disease in Children: The Nephrologist's PerspectivePaula Pérez-Albert, Carmen de Lucas Collantes, Miguel Ángel Fernández-García, et al.JIMD Reports|January 31, 2018
The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry PatientsAlexandra Ivleva, Ekaterina Weith, Atul Mehta, et al.JIMD Reports|May 12, 2021
Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findingsAdam J Guenzel, Andrea DeBarber, Kimiyo Raymond, et al.JIMD Reports|May 12, 2021
A founder mutation in the PLPBP gene in families from Saguenay-Lac-St-Jean region affected by a pyridoxine-dependent epilepsyMaitou Pal, Baiba Lace, Yvan Labrie, et al.Pageof 128