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Plos One|February 6, 2014
Interaction of glutaric aciduria type 1-related glutaryl-CoA dehydrogenase with mitochondrial matrix proteinsJessica Schmiesing, Hartmut Schlüter, Kurt Ullrich, et al.
European Journal of Pediatrics|October 10, 2002
Radical trapping in glycogen storage disease 1aBirgit Wittenstein, Marcus Klein, Barbara Finckh, et al.
Free Radical Biology & Medicine|June 28, 2002
Plasma antioxidants in pediatric patients with glycogen storage disease, diabetes mellitus, and hypercholesterolemiaBirgit Wittenstein, Marcus Klein, Barbara Finckh, et al.
Experimental Neurology|April 20, 2016
Phenylketonuria: Direct and indirect effects of phenylalanineGudrun Schlegel, Ralf Scholz, Kurt Ullrich, et al.
European Journal of Pediatrics|August 15, 2002
Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutationsRobert Steinfeld, Alfried Kohlschütter, Johannes Zschocke, et al.
American Journal of Medical Genetics. Part A|August 12, 2005
Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotypeStephan Tiede, Nicole Muschol, Gert Reutter, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndromeNicole Muschol, Sandra Pohl, Ann Meyer, et al.
The Biochemical Journal|September 26, 2002
Secretion of phosphomannosyl-deficient arylsulphatase A and cathepsin D from isolated human macrophagesNicole Muschol, Ulrich Matzner, Stephan Tiede, et al.
FEBS Letters|May 24, 2006
Elevated phenylalanine levels interfere with neurite outgrowth stimulated by the neuronal cell adhesion molecule L1 in vitroChristine Hartwig, Andreas Gal, Rene Santer, et al.
Human Genetics|January 11, 2003
Mutational analysis in longest known survivor of mucopolysaccharidosis type VIIStephan Storch, Birgit Wittenstein, Rafiqul Islam, et al.
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