Associated Papers
First Report of a Patient with MPS Type VII, Due to Novel Mutations in GUSB, Who Underwent Enzyme Replacement and Then Hematopoietic Stem Cell Transplantation.
Dubot P et al.
International Journal of Molecular Sciences, 2019
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.
Morava E et al.
Brain : a Journal of Neurology, 2010
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