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Journal of Inherited Metabolic Disease|April 22, 2016
Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass-spectrometryHubertus C M T Prinsen, B G M Schiebergen-Bronkhorst, M W Roeleveld, et al.Journal of Inherited Metabolic Disease|April 24, 2016
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disordersRoland Posset, Angeles Garcia-Cazorla, Vassili Valayannopoulos, et al.Journal of Inherited Metabolic Disease|March 15, 2016
Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experienceBregje Jaeger, Annet M BoschJournal of Inherited Metabolic Disease|March 11, 2016
On the phenotypic spectrum of serine biosynthesis defectsAyman W El-Hattab, Ranad Shaheen, Jozef Hertecant, et al.Journal of Inherited Metabolic Disease|May 4, 2012
Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening resultJ Gerard Loeber, Peter Burgard, Martina C Cornel, et al.Journal of Inherited Metabolic Disease|August 29, 2014
Dietary management in glycogen storage disease type III: what is the evidence?Terry G J Derks, G Peter A SmitJournal of Inherited Metabolic Disease|August 29, 2014
The consequences of genetic and pharmacologic reduction in sphingolipid synthesisRaphael SchiffmannJournal of Inherited Metabolic Disease|March 21, 2013
Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestationStefan Kölker, Peter Burgard, Sven W Sauer, et al.Journal of Inherited Metabolic Disease|January 16, 2016
Effects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in classic infantile Pompe disease: an open-label single-center studyC M van Gelder, E Poelman, I Plug, et al.Journal of Inherited Metabolic Disease|March 23, 2016
Stem cell therapy for white matter disorders: don't forget the microenvironment!Stephanie Dooves, Marjo S van der Knaap, Vivi M HeinePageof 429