Glycogen storage disease II in Lapland dogs
نویسندگان
چکیده
منابع مشابه
Evidence of cardiomyocyte necrosis in glycogen storage disease type II.
Adult-onset glycogen storage disease type II (GSD-II), unlike the infantile form, is not normally associated with coexisting cardiovascular pathologies. In infantile onset GSD-II, cardiomyopathy is a common feature, and mutations in the genes for cardiac troponin T and I are likely to be involved. This case report describes a 39-year-old man with no classical risk factors for premature cardiac ...
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...
متن کامل[Glycogen storage disease].
The glycogen storage diseases (GSD) or glycogenoses are a heterogenous group of inborn errors of carbohydrate metabolism that lead to abnormal concentrations or structure of glycogen. Several well defined disorders of glycogen metabolism, have been described based on the identified enzymatic defects or sometimes the distinctive features(l). We wish to report our experience with one such case of...
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: The FASEB Journal
سال: 2013
ISSN: 0892-6638,1530-6860
DOI: 10.1096/fasebj.27.1_supplement.874.10