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JIMD Reports|August 25, 2026
Glucose Transporter Deficiency Syndrome Type 1 (Glut1-DS): New Insights From a Brazilian Cohort of PatientsLívia Maria Ferreira Sobrinho, Juliana Cristine Fontana, Claudia F Lorea, et al.JIMD Reports|August 12, 2026
The Impact of Hydrotherapy on Health-Related Quality of Life, Pain and Mobility in Individuals With Mucopolysaccharidosis Type II (Hunter Syndrome): A Pilot Feasibility StudyAndrew Oldham, Nicole Stockton, Mark Warburton, et al.JIMD Reports|August 14, 2026
Challenges in Managing Pregnancy in Patients With Fructose 1, 6-Bisphosphatase Deficiency: A Single-Centre ExperienceRaashda A Sulaiman, Ibrahim Alqasir, Dana Alqasabi, et al.JIMD Reports|September 24, 2026
Utility of Exogenous Ketones and Modified Atkins Diet in a Child With GSD VII (Tarui Disease)Kiera Batten, Nancy Van Doorn, Ji Hyun Moon, et al.JIMD Reports|July 14, 2021
Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal settingMaria Fuller, David KetteridgeJIMD Reports|July 14, 2021
Human d-lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiencyAnna Ka-Yee Kwong, Sheila Suet-Na Wong, Richard J T Rodenburg, et al.JIMD Reports|July 14, 2021
The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnosesAdam J Guenzel, Patricia L Hall, Anna I Scott, et al.JIMD Reports|January 13, 2023
Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseasesMary Kay Koenig, Sam Nick Russo, Kim L McBride, et al.JIMD Reports|January 13, 2023
Infantile-onset Pompe disease with neutropenia: Treatment decisions in the face of a unique phenotypeMary Riedy, Jeff F Zhang, Taosheng Huang, et al.JIMD Reports|January 13, 2023
Isolated neurological presentations of mevalonate kinase deficiencyEva M M Hoytema van Konijnenburg, Esmeralda Oussoren, Joost Frenkel, et al.Pageof 127