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Journal of Inherited Metabolic Disease|January 17, 2014
Human pyrroline-5-carboxylate reductase (PYCR1) acts on Δ(1)-piperideine-6-carboxylate generating L-pipecolic acidEduard A Struys, Erwin E W Jansen, Gajja S SalomonsJournal of Inherited Metabolic Disease|January 31, 2015
Lipids in hepatic glycogen storage diseases: pathophysiology, monitoring of dietary management and future directionsTerry G J Derks, Margreet van RijnJournal of Inherited Metabolic Disease|June 26, 2012
Primary ovarian insufficiency in classic galactosemia: role of FSH dysfunction and timing of the lesionCynthia S Gubbels, Jolande A Land, Johannes L H Evers, et al.Journal of Inherited Metabolic Disease|October 12, 2012
Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemiaLorena Gallego-Villar, Celia Pérez-Cerdá, Belén Pérez, et al.Journal of Inherited Metabolic Disease|March 20, 2010
Fatal cerebral edema associated with serine deficiency in CSFIrene M L W Keularts, Piet L J M Leroy, Estela M Rubio-Gozalbo, et al.Journal of Inherited Metabolic Disease|May 8, 2023
Measuring what matters: Why and how to include patient reported outcomes in clinical care and research on inborn errors of metabolismMartina Huemer, Florin BöschJournal of Inherited Metabolic Disease|May 19, 2023
Gene therapies for mucopolysaccharidosesAlessandro Rossi, Nicola Brunetti-PierriJournal of Inherited Metabolic Disease|June 5, 2014
The significance of GBA for Parkinson's diseaseKathrin Brockmann, Daniela BergJournal of Inherited Metabolic Disease|June 8, 2014
Parkinsonism and inborn errors of metabolismA Garcia-Cazorla, S T DuarteJournal of Inherited Metabolic Disease|June 26, 2014
A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut (0) methylmalonic acidemiaHilary J Vernon, C John Sperati, Joshua D King, et al.Pageof 429