A new variant form of hepatic glycogenosis with acid maltase deficiency
โ 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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๐ SIMILAR VOLUMES
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
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
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