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Pediatrics|December 5, 2003
Brain imaging and proton magnetic resonance spectroscopy in patients with phenylketonuriaHarald E Möller, Josef Weglage, Ulrich Bick, et al.The Journal of Biological Chemistry|April 2, 2011
Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cellsJessica Lamp, Britta Keyser, David M Koeller, et al.Human Molecular Genetics|September 9, 2008
Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH)Britta Keyser, Chris Mühlhausen, Achim Dickmanns, et al.Pediatrics|October 17, 2007
Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A)Ann Meyer, Kai Kossow, Andreas Gal, et al.Neurobiology of Disease|December 31, 2002
Activation of GABA(A) receptors by guanidinoacetate: a novel pathophysiological mechanismAxel Neu, Henrike Neuhoff, Gerhard Trube, et al.Journal of Magnetic Resonance Imaging : JMRI|April 22, 2008
MRI abnormalities in normal-appearing brain tissue of treated adult PKU patientsXiao-Qi Ding, Jens Fiehler, Brigitte Kohlschütter, et al.Human Mutation|November 9, 2004
A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation siteStephan Tiede, Michael Cantz, Annick Raas-Rothschild, et al.Human Molecular Genetics|October 10, 2014
Hippocampal synaptic connectivity in phenylketonuriaKatja Horling, Gudrun Schlegel, Sarah Schulz, et al.Human Mutation|April 15, 2008
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)Ann Meyer, Kai Kossow, Andreas Gal, et al.American Journal of Medical Genetics|October 12, 2002
Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutationsRobert Steinfeld, Peter Heim, Henning von Gregory, et al.Pageof 5