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Beta galactosidase and the Morquio syndrome

✍ Scribed by Spranger, Jürgen W.

Book ID
101444845
Publisher
John Wiley and Sons
Year
1977
Tongue
English
Weight
189 KB
Volume
1
Category
Article
ISSN
0148-7299

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Morquio B syndrome: A primary defect in
Morquio B syndrome: A primary defect in β-galactosidase
✍ van der Horst, Gijsbertus T. J. ;Kleijer, Wim J. ;Hoogeveen, André T. ;Huijmans, 📂 Article 📅 1983 🏛 John Wiley and Sons 🌐 English ⚖ 902 KB

Fibroblasts from patients with Morquio B syndrome contain normal numbers of 0-galactosidase molecules with normal turnover but strongly reduced activity per enzyme molecule. Various substrate affinities are abnormal: the K, for methylum belliferyl (MU)-P-galactoside is 4-10-fold elevated and affinit

Mild manifestations of the Morquio syndr
Mild manifestations of the Morquio syndrome
✍ Hecht, Jacqueline T. ;Scott, Charles I. ;Smith, Taylor K. ;Williams, Julian C. ; 📂 Article 📅 1984 🏛 John Wiley and Sons 🌐 English ⚖ 146 KB

We read with interest the report of Fujimoto and Horowitz (1983) about two sibs with mild manifestations of Morquio syndrome. Recently we evaluated a 13-10/12-year-old boy who was referred because of nonresolving bilateral Legg-Perthes disease (Fig. 1). His height (Tanner stadiometer) was 149.2 cm (