Showing results (621-630 of 1,263) with videos related to
Sort By:
Pageof 127
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.JIMD Reports|July 7, 2014
Reversible keratopathy due to hypertyrosinaemia following intermittent low-dose nitisinone in alkaptonuria: a case reportR M K Stewart, M C Briggs, J C Jarvis, et al.JIMD Reports|July 7, 2014
Analysis of methylcitrate in dried blood spots by liquid chromatography-tandem mass spectrometryOsama Y Al-Dirbashi, Nathan McIntosh, Christine McRoberts, et al.JIMD Reports|November 26, 2013
Newborn screening for hunter disease: a small-scale feasibility studyG J G Ruijter, D A Goudriaan, A M Boer, et al.Pageof 127