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Branching enzyme in erythrocytes. Detection of type IV glycogenosis homozygotes and heterozygotes

✍ Scribed by Y. S. Shin; H. Steigüber; P. Klemm; W. Endres; O. Schwab; G. Wolff


Book ID
105314525
Publisher
Springer
Year
1988
Tongue
English
Weight
187 KB
Volume
11
Category
Article
ISSN
0141-8955

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A new variant of type IV glycogenosis: D
✍ Harry L. Greene; Barbara I. Brown; Daniel T. McClenathan; Rocco M. Agostini Jr.; 📂 Article 📅 1988 🏛 John Wiley and Sons 🌐 English ⚖ 621 KB

Type IV glycogenosis is due to branching enzyme deficiency and is usually manifested clinically by progressive liver disease with cirrhosis and hepatic failure between the second and fourth years of life. We describe a 6-year-old boy who, following an acute febrile illness at 2 years of age, was fir