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A new variant form of hepatic glycogenosis with acid maltase deficiency

โœ Scribed by Nobuyuki Ninomiya; Takanori Terashima; Teruo Iwamasa; Ichiro Matsuda


Book ID
105332345
Publisher
Nature Publishing Group
Year
1984
Tongue
English
Weight
779 KB
Volume
29
Category
Article
ISSN
1435-232X

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๐Ÿ“œ SIMILAR VOLUMES


Acid maltase deficiency: treatment of re
โœ A. E. J. Jager; A. F. Meinesz ๐Ÿ“‚ Article ๐Ÿ“… 1983 ๐Ÿ› Springer ๐ŸŒ English โš– 364 KB

Three patients with the late-onset form of acid maltase deficiency showed a gradual weakening of proximal limb and trunk muscles leading to severe respiratory insufficiency. Considerable deterioration of pulmonary function occurred owing to a vicious cycle of hypoventilation and exhaustion. Treatmen

A new variant of type IV glycogenosis: D
โœ Harry L. Greene; Barbara I. Brown; Daniel T. McClenathan; Rocco M. Agostini Jr.; ๐Ÿ“‚ Article ๐Ÿ“… 1988 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 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

Nosology of lysosomal glycogen storage d
โœ Verloes, Alain; Massin, Martial; Lombet, Jacques; Grattagliano, Bettina; Soyeur, ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 73 KB

We describe a boy with an early lethal hypertrophic vacuolar cardiomyopathy of neonatal onset. Abnormal intra-and extralysosomal glycogen storage disease was demonstrated in heart and skeletal muscles. Glycogen content was twice the normal in muscles and over 3-fold the normal in the heart. In this