Three Differing Cases of Glycogen Storage Disease
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چکیده
منابع مشابه
Three Differing Cases of Glycogen Storage
More than 30 years have elapsed since von Gierke (1929) gave the first comprehensive account of clinical and pathological studies on cases in which large deposits of glycogen could be found in the liver and kidneys. Many cases have been reported since then and differing types of glycogen storage disease have been recognized so that a group of diseases each having their characteristic abnormalit...
متن کاملOn the Differing Appearance of Intranuclear and Cytoplasmic Glycogen in Liver Cells in Glycogen Storage Disease
Wi th new methods of prepar ing th in sections for electron microscopy, glycogen has been identified in the cytoplasm of liver cells as dense particles of various sizes (3, 4, 7, 9). Glycogen does not usually occur within the nucleus, bu t it has been described there in a variety of pathological conditions (1). This report concerns the appearance of glycogen in the nucleus of liver cells from a...
متن کاملGlycogen storage disease: report of 17 cases from southern India.
BACKGROUND There are only four reports of glycogen storage disease (GSD), totalling six cases, from India. OBJECTIVE To determine the clinical phenotypes of children diagnosed with GSD in southern India. METHODS Liver biopsy reports from 1994 to 2005 were reviewed and GSD was confirmed in 17 patients. All 17 patients were tested for the three commonest GSD 1a mutations by restriction fragme...
متن کاملPompe's Glycogen Storage Disease
The clinical spectrum is continuous and broad and three major forms are recognised: infantile, juvenile and adult-onset. [1] In the infantile form, accumulation of glycogen in cardiac muscle leads to cardiac failure. Accumulation may also occur in the liver, which results in hepatomegaly and elevation of hepatic enzymes. Glycogen accumulation in muscle and peripheral nerves causes hypotonia and...
متن کاملPompe's Glycogen Storage Disease
The clinical spectrum is continuous and broad and three major forms are recognised: infantile, juvenile and adult-onset. [1] In the infantile form, accumulation of glycogen in cardiac muscle leads to cardiac failure. Accumulation may also occur in the liver, which results in hepatomegaly and elevation of hepatic enzymes. Glycogen accumulation in muscle and peripheral nerves causes hypotonia and...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1961
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.36.188.432