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JIMD Reports|March 20, 2015
Investigating the Robustness and Diagnostic Potential of Extracellular Matrix Remodelling Biomarkers in AlkaptonuriaF Genovese, A S Siebuhr, K Musa, et al.JIMD Reports|March 20, 2015
Age-Related Deviation of Gait from Normality in AlkaptonuriaGabor J Barton, Stephanie L King, Mark A Robinson, et al.JIMD Reports|March 13, 2015
Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian PatientsNeerja Gupta, Pawan Kumar Singh, Manoj Kumar, et al.JIMD Reports|February 22, 2015
Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD ConsortiumStefan Kölker, Dries Dobbelaere, Johannes Häberle, et al.JIMD Reports|January 22, 2015
Refsum Disease Presenting with a Late-Onset LeukodystrophyFlavie Bompaire, Véronique Marcaud, Emmanuelle Le Trionnaire, et al.JIMD Reports|January 24, 2015
Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the LiteratureMaines Evelina, Morandi Grazia, Olivieri Francesca, et al.JIMD Reports|January 24, 2015
Long-term functional outcomes of children with hurler syndrome treated with unrelated umbilical cord blood transplantationHannah Y Coletti, Mieke Aldenhoven, Karina Yelin, et al.JIMD Reports|October 13, 2018
A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old BoyB Ryder, M Tolomeo, Z Nochi, et al.JIMD Reports|October 13, 2018
Case of Neonatal Fatality from Neuromuscular Variant of Glycogen Storage Disease Type IVTavleen Sandhu, Michelle Polan, Zhongxin Yu, et al.JIMD Reports|May 8, 2023
A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsyLynne Rumping, Petra J W Pouwels, Nicole I Wolf, et al.Pageof 127