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Journal of Inherited Metabolic Disease|September 4, 2016
Treatment with pentosan polysulphate in patients with MPS I: results from an open label, randomized, monocentric phase II studyJulia B Hennermann, Seyfullah Gökce, Alexander Solyom, et al.Journal of Inherited Metabolic Disease|July 9, 2017
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patientsEwa Pronicka, Mariola Ropacka-Lesiak, Joanna Trubicka, et al.Journal of Inherited Metabolic Disease|January 12, 2010
Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutationJytte Bieber Nielsen, Karin E Nielsen, Flemming GüttlerJournal of Inherited Metabolic Disease|December 25, 2009
Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screeningZoltan Lukacs, Paulina Nieves Cobos, Eugen Mengel, et al.Journal of Inherited Metabolic Disease|May 4, 2018
Patterns, evolution, and severity of striatal injury in insidious- versus acute-onset glutaric aciduria type 1Nikolas Boy, Sven F Garbade, Jana Heringer, et al.Journal of Inherited Metabolic Disease|May 5, 2018
Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosisAllan M Lund, Line Borgwardt, Federica Cattaneo, et al.Journal of Inherited Metabolic Disease|March 10, 2009
Adiponectin levels correlate with the severity of hypertriglyceridaemia in glycogen storage disease IaR H J Bandsma, G P A Smit, D-J Reijngoud, et al.Journal of Inherited Metabolic Disease|March 12, 2009
Autism: Is there a folate connection?R J Leeming, M LucockJournal of Inherited Metabolic Disease|March 12, 2009
Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12)V Valayannopoulos, L Hubert, J F Benoist, et al.Journal of Inherited Metabolic Disease|March 14, 2009
Measurement of D: -2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from D: -2-hydroxyglutaric aciduria patientsW V Wickenhagen, G S Salomons, K M Gibson, et al.Pageof 429