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JIMD Reports|November 20, 2019
Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP geneKristian Vestergaard Jensen, Maria Frid, Tommy Stödberg, et al.JIMD Reports|November 20, 2019
High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinosesAbdulhakim Jilani, Diana Matviychuk, Susan Blaser, et al.JIMD Reports|March 11, 2020
Pre-school neurocognitive and functional outcomes after liver transplant in children with early onset urea cycle disorders, maple syrup urine disease, and propionic acidemia: An inception cohort matched-comparison studyShailly Jain-Ghai, Ari R Joffe, Gwen Y Bond, et al.JIMD Reports|December 26, 2013
Mutations in the Complex III Assembly Factor Tetratricopeptide 19 Gene TTC19 Are a Rare Cause of Leigh SyndromeP S AtwalJIMD Reports|November 6, 2013
Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort StudySarah Leuders, Eva Wolfgart, Torsten Ott, et al.JIMD Reports|November 6, 2013
Evaluation of physiological amino acids profiling by tandem mass spectrometryRomain Filee, Roland Schoos, François BoemerJIMD Reports|November 7, 2013
Aminoglycoside-Induced Premature Stop Codon Read-Through of Mucopolysaccharidosis Type I Patient Q70X and W402X Mutations in Cultured CellsMakoto Kamei, Karissa Kasperski, Maria Fuller, et al.JIMD Reports|March 17, 2021
Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemmaJason Foran, Michael Moore, Ellen Crushell, et al.JIMD Reports|March 17, 2021
Onset of psychiatric signs and impaired neurocognitive domains in inherited metabolic disorders: A case seriesFrançois Medjkane, Marine Bohet, Marielle Ister, et al.JIMD Reports|March 17, 2021
SLC37A4-CDG: Second patientMatthew P Wilson, Dulce Quelhas, Elisa Leão-Teles, et al.Pageof 127