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Human Molecular Genetics|April 26, 2011
Intracerebroventricular enzyme infusion corrects central nervous system pathology and dysfunction in a mouse model of metachromatic leukodystrophyStijn Stroobants, Debora Gerlach, Frank Matthes, et al.
Frontiers in Psychiatry|November 16, 2020
Advance Decision Making in Bipolar: A Systematic ReviewLucy A Stephenson, Tania Gergel, Astrid Gieselmann, et al.
Journal of Enzyme Inhibition and Medicinal Chemistry|July 14, 2020
Synthesis and structure-activity relationships of cerebroside analogues as substrates of cerebroside sulphotransferase and discovery of a competitive inhibitorWenjin Li, Joren Guillaume, Younis Baqi, et al.
American Journal of Medical Genetics|April 6, 2000
Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophyS Hermann, F Schestag, A Polten, et al.
Neurobiology of Disease|June 15, 2004
Specific downregulation and mistargeting of the lipid raft-associated protein MAL in a glycolipid storage disorderK Saravanan, N Schaeren-Wiemers, D Klein, et al.
The Journal of Biological Chemistry|June 2, 2011
Normal fur development and sebum production depends on fatty acid 2-hydroxylase expression in sebaceous glandsHelena Maier, Marion Meixner, Dieter Hartmann, et al.
Experimental Neurology|May 10, 2015
Enzyme replacement therapy of a novel humanized mouse model of globoid cell leukodystrophyFrank Matthes, Claes Andersson, Axel Stein, et al.
JIMD Reports|July 13, 2022
Two successful pregnancies and first use of empagliflozin during pregnancy in glycogen storage disease type IbSarah Catharina Grünert, Stefanie Rosenbaum-Fabian, Anke Schumann, et al.
The Journal of Biological Chemistry|February 20, 2009
Saposin B-dependent reconstitution of arylsulfatase A activity in vitro and in cell culture models of metachromatic leukodystrophyUlrich Matzner, Bernadette Breiden, Günter Schwarzmann, et al.
The Journal of Biological Chemistry|November 22, 2002
Collapsin response mediator proteins of neonatal rat brain interact with chondroitin sulfateSebastian Franken, Ulrich Junghans, Volker Rosslenbroich, et al.
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