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Altered serum α-D-mannosidase activity in mucolipidosis II and mucolipidosis III

✍ Scribed by Barry C. Kress; Arnold L. Miller

Book ID
118312948
Publisher
Elsevier Science
Year
1978
Tongue
English
Weight
461 KB
Volume
81
Category
Article
ISSN
0006-291X

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✍ Hud Freeze; Barry C. Kress; Julian C. Williams; M. Cerda-Ruiz; Arnold L. Miller 📂 Article 📅 1978 🏛 Springer 🌐 English ⚖ 358 KB

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