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Molecular Medicine (Cambridge, Mass.)|August 25, 2011
Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 diseaseAnne-Hélène Lebrun, Parisa Moll-Khosrawi, Sandra Pohl, et al.Human Mutation|March 25, 2009
Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibshipAnne-Hélène Lebrun, Stephan Storch, Franz Rüschendorf, et al.Biochimica Et Biophysica Acta|March 20, 2008
Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1Britta Keyser, Markus Glatzel, Franziska Stellmer, et al.Journal of Molecular Medicine (Berlin, Germany)|March 16, 2007
3-Hydroxyglutaric acid is transported via the sodium-dependent dicarboxylate transporter NaDC3Franziska Stellmer, Britta Keyser, Birgitta C Burckhardt, et al.Human Molecular Genetics|March 19, 2004
Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiencyAndreas Schmidt, Bart Marescau, Ernest A Boehm, et al.Pediatric Research|January 9, 2004
Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVAShunji Tomatsu, Kazuo Okamura, Takeshi Taketani, et al.Nature Genetics|July 22, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.Pageof 5