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Journal of Inherited Metabolic Disease|October 29, 2011
Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB₁ alleles causing GM1-gangliosidosis and Morquio B diseaseKatrin M Fantur, Tanja M Wrodnigg, Arnold E Stütz, et al.Journal of Inherited Metabolic Disease|January 11, 2012
Endothelial function in children and adolescents with mucopolysaccharidosisAaron S Kelly, Andrea M Metzig, Julia Steinberger, et al.Journal of Inherited Metabolic Disease|January 11, 2012
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosisTomas Honzik, Marketa Tesarova, Martin Magner, et al.Journal of Inherited Metabolic Disease|December 16, 2011
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginineDiego Martinelli, Johannes Häberle, Vicente Rubio, et al.Journal of Inherited Metabolic Disease|January 27, 2012
Mucopolysaccharidosis: cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VIMarion M M G Brands, Ingrid M Frohn-Mulder, Marloes L C Hagemans, et al.Journal of Inherited Metabolic Disease|March 7, 2012
Tetrahydrobiopterin (BH4) in PKU: effect on dietary treatment, metabolic control, and quality of lifeB Ziesch, J Weigel, A Thiele, et al.Journal of Inherited Metabolic Disease|March 7, 2012
Progress in understanding 2-hydroxyglutaric aciduriasMartijn Kranendijk, Eduard A Struys, Gajja S Salomons, et al.Journal of Inherited Metabolic Disease|March 10, 2012
Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutationPaul de Laat, Saskia Koene, Lambert P W J van den Heuvel, et al.Journal of Inherited Metabolic Disease|August 25, 2011
Survival, but not maturation, is affected in neutrophil progenitors from GSD-1b patientsGepke Visser, Wilco de Jager, Liesbeth P Verhagen, et al.Journal of Inherited Metabolic Disease|July 23, 2011
The adult galactosemic phenotypeSusan E Waisbren, Nancy L Potter, Catherine M Gordon, et al.Pageof 429