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Molecular Genetics and Metabolism|November 17, 2022
Detection of early cardiac disease manifestation in propionic acidemia - Results of a monocentric cross-sectional studyAlexander Kovacevic, Sven F Garbade, Friederike Hörster, et al.
Der Nervenarzt|September 24, 2002
[CDG (congenital disorders of glycosylation). Differential hereditary ataxia in adulthood diagnosis]S Bubel, V Peters, C Klein, et al.
Nature Medicine|December 14, 2011
Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in miceAnette Schneider, Christian Thiel, Jan Rindermann, et al.
Frontiers in Microbiology|July 12, 2019
The Anti-mycobacterial Activity of a Diterpenoid-Like Molecule Operates Through Nitrogen and Amino Acid StarvationAlessandra Crusco, Rafael Baptista, Sumana Bhowmick, et al.
Plos One|April 9, 2020
FDA orphan drug designations for lysosomal storage disorders - a cross-sectional analysisSven F Garbade, Matthias Zielonka, Konstantin Mechler, et al.
Neurology|June 30, 2005
Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiencyS Külkens, I Harting, S Sauer, et al.
Sleep|March 24, 2006
Sex and age differences in sleep macroarchitecture in childhood and adolescent depressionJennifer J T Robert, Robert F Hoffmann, Graham J Emslie, et al.
Glycobiology|July 11, 2006
Gender-specific expression of complex-type N-glycans in schistosomesManfred Wuhrer, Carolien A M Koeleman, Jennifer M Fitzpatrick, et al.
Pediatric Neurology|November 1, 2006
Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapyBernard Echenne, Agathe Roubertie, Birgit Assmann, et al.
European Journal of Medicinal Chemistry|April 27, 2018
Design, synthesis and anthelmintic activity of 7-keto-sempervirol analoguesAlessandra Crusco, Cinzia Bordoni, Anand Chakroborty, et al.
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