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Frequent mutations in Japanese patients with acid maltase deficiency

โœ Scribed by Seiichi Tsujino; Maryann Huie; Naomi Kanazawa; Hideo Sugie; Yu-ichi Goto; Mitsuru Kawai; Ikuya Nonaka; Rochelle Hirschhorn; Norio Sakuragawa

Book ID
117669331
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
132 KB
Volume
10
Category
Article
ISSN
0960-8966

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โœ Fusako Usuki; Shoichi Ishiura; Dr. Hideo Sugita ๐Ÿ“‚ Article ๐Ÿ“… 1986 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 516 KB

In Japanese quails with late-onset acid maltase deficiency (AMD), the activity of acid a-glucosidase was severely reduced to approximately 16% of the normal level from an embryonic age. The kinetic characteristics and inhibition by Zn indicated that the residual activity was responsible for the intr