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Molecular order in mucolipidosis II and III nomenclature

โœ Scribed by Sara S. Cathey; Mariko Kudo; Stephan Tiede; Annick Raas-Rothschild; Thomas Braulke; Michael Beck; Harold A. Taylor; William M. Canfield; Jules G. Leroy; Elizabeth F. Neufeld; Victor A. McKusick


Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
64 KB
Volume
146A
Category
Article
ISSN
1552-4825

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Mucolipidosis II (I-cell disease) and Mucolipidosis III (ML III) are inherited disorders in which the molecular defect may involve an abnormality in a common post-translational modification step (possibly glycosylation) shared by lysosomal hydrolases. We tested whether such an alteration might be a