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A mild adult myopathic variant of type iv glycogenosis

✍ Scribed by A. Bornemann; R. Besser; Y.S. Shin; H.H. Goebel

Book ID
116168556
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
524 KB
Volume
6
Category
Article
ISSN
0960-8966

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πŸ“œ SIMILAR VOLUMES

A new variant of type IV glycogenosis: D
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✍ Harry L. Greene; Barbara I. Brown; Daniel T. McClenathan; Rocco M. Agostini Jr.; πŸ“‚ Article πŸ“… 1988 πŸ› John Wiley and Sons 🌐 English βš– 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

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We report on 3 consecutive sib fetuses, presenting at 13, 12, and 13 weeks of gestation, respectively, with fetal hydrops, limb contractures, and akinesia. Autopsy of the first fetus showed subcutaneous fluid collections and severe degeneration of skeletal muscle. Histologic studies demonstrated mas