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Links from MedGen

Items: 6

1.
First Human Treatment With Investigational rhGUS Enzyme Replacement Therapy in an Advanced Stage MPS VII Patient
Joyce E Fox, Linda Volpe, Josephine Bullaro, Emil D Kakkis, William S Sly
Mol Genet Metab. Author manuscript; available in PMC 2016 Feb 1.
Published in final edited form as: Mol Genet Metab. 2015 Feb; 114(2): 203–208. Published online 2014 Nov 7. doi: 10.1016/j.ymgme.2014.10.017
PMCID:
PMC4360956
AbstractArticlePDF–374K
2.
Characterization of an MPS I-H Knock-In Mouse that Carries a Nonsense Mutation Analogous to the Human IDUA-W402X Mutation
Dan Wang, Charu Shukla, Xiaoli Liu, Trenton R. Schoeb, Lorne A. Clarke, David M. Bedwell, Kim M. Keeling
Mol Genet Metab. Author manuscript; available in PMC 2011 Jan 1.
Published in final edited form as: Mol Genet Metab. 2010 Jan; 99(1): 62–71. doi: 10.1016/j.ymgme.2009.08.002
Correction in:
volume 99 on page 439
PMCID:
PMC2795040
AbstractArticlePDF–1.8M
3.
Hurler's, Hunter's and Morquio's syndromes. A biochemical study in the light of current views of the underlying defects
M. F. Dean, Helen Muir, R. J. F. Ewins
Biochem J. 1971 Aug; 123(5): 883–894. doi: 10.1042/bj1230883
PMCID:
PMC1177089
SummaryPage BrowsePDF–1.8M
4.
Normal MPS excretion, but dermatan sulphaturia, combined with a mild Maroteaux-Lamy phenotype.
T Tønnesen, H N Gregersen, F Güttler
J Med Genet. 1991 Jul; 28(7): 499–501. doi: 10.1136/jmg.28.7.499
PMCID:
PMC1016967
SummaryPage BrowsePDF–360K
5.
Arylsulfatase B-deficient mucopolysaccharidosis in rats.
M Yoshida, J Noguchi, H Ikadai, M Takahashi, S Nagase
J Clin Invest. 1993 Mar; 91(3): 1099–1104. doi: 10.1172/JCI116268
PMCID:
PMC288065
SummaryPage BrowsePDF–2.3M
6.
A canine model of human alpha-L-iduronidase deficiency.
E Spellacy, R M Shull, G Constantopoulos, E F Neufeld
Proc Natl Acad Sci U S A. 1983 Oct; 80(19): 6091–6095. doi: 10.1073/pnas.80.19.6091
PMCID:
PMC534366
SummaryPage BrowsePDF–1.0M

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