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Molecular and Cellular Biochemistry|April 22, 2022
Hepatocyte expressed chemerin-156 does not protect from experimental non-alcoholic steatohepatitisRebekka Pohl, Laura Eichelberger, Susanne Feder, et al.
Orphanet Journal of Rare Diseases|June 20, 2022
Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registryMichael Beck, Uma Ramaswami, Elizabeth Hernberg-Ståhl, et al.
The Journal of Pediatrics|May 6, 2004
Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase)James E Wraith, Lorne A Clarke, Michael Beck, et al.
Orphanet Journal of Rare Diseases|May 4, 2017
Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registryJoseph Muenzer, Simon A Jones, Anna Tylki-Szymańska, et al.
American Journal of Medical Genetics. Part A|February 4, 2005
Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)Stuart J Swiedler, Michael Beck, Manal Bajbouj, et al.
Orphanet Journal of Rare Diseases|September 28, 2013
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher diseaseYildiz Yildiz, Per Hoffmann, Stefan Vom Dahl, et al.
Molecular Vision|June 17, 2008
Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testingJohn Neidhardt, Esther Glaus, Birgit Lorenz, et al.
Human Molecular Genetics|November 5, 2005
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycleDebra A Thompson, Andreas R Janecke, Jessica Lange, et al.
Contact Dermatitis|August 8, 2007
Dicaprylyl maleate--an emerging cosmetic allergenHelen Lotery, Stephen Kirk, Michael Beck, et al.
Molecular Genetics and Metabolism|December 3, 2009
A validated disease severity scoring system for Fabry diseaseEdward H Giannini, Atul B Mehta, Max J Hilz, et al.
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