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JIMD Reports|March 11, 2016
A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of AlkaptonuriaBerardino Porfirio, Roberta Sestini, Greta Gorelli, et al.JIMD Reports|April 13, 2016
Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II DeficiencyAndrew C Edmondson, Jennifer Salant, Lynne A Ierardi-Curto, et al.JIMD Reports|June 25, 2016
Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase DeficiencyJohn M Schreiber, Phillip L Pearl, Irene Dustin, et al.JIMD Reports|June 27, 2016
Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic AciduriasFriederike Hörster, Stefan Kölker, J Gerard Loeber, et al.JIMD Reports|November 14, 2015
In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry DiseaseLinda van der Tol, Camiel Verhamme, Ivo N van Schaik, et al.JIMD Reports|October 14, 2015
Energy Expenditure in Chilean Children with Maple Syrup Urine Disease (MSUD)Karen Campo, Gabriela Castro, Valerie Hamilton, et al.JIMD Reports|November 14, 2013
Danon Disease Due to a Novel LAMP2 MicroduplicationMatthew A Lines, Stacy Hewson, William Halliday, et al.JIMD Reports|October 22, 2013
Distribution and Severity of Neuropathology in β-Mannosidase-Deficient Mice is Strain DependentKathryn L Lovell, Mei Zhu, Meghan C Drummond, et al.JIMD Reports|October 22, 2013
Vestibular and Saccadic Abnormalities in Gaucher's DiseaseLuke Chen, G Michael Halmagyi, Michael J Todd, et al.JIMD Reports|November 12, 2013
Behavioral responses in rats submitted to chronic administration of branched-chain amino acidsGiselli Scaini, Gabriela C Jeremias, Camila B Furlanetto, et al.Pageof 127