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Type IV glycogen storage disease

Brown BI, Brown DH (1989) Branching enzyme activity of cultured amniocytes and chorionic villi prenatal testing for type IV glycogen storage disease. Am J Hum Genet 44 378-381... [Pg.469]

In amylopectinosis (type IV glycogen storage disease), all tissues are affected by the accumulation of glycogen that has a stracture similar to amylopectin, the form of starch that has a branched structure with a large number of glucose residues between branches and long branches. Why is this so ... [Pg.426]

McConMe-RoseU A, et al. Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease. J Inherit Metab Dis. 1996 19(1) 51-8. [Pg.306]

Several types of glycogen-storage disease are now known in most cases, the accumulation of glycogen can be correlated with a relative deficiency of either n-glucose 6-phosphatase or the debranching-enzyme system (Type I and III disease, respectively). In a very few cases, the enzymic defect is either in branching enzyme or in phosphorylase (Type IV or VI disease, respectively) see Table VII. In the Type II and V diseases, the enzyme deficiencies are different from the above, but have not yet been fully identified. [Pg.403]

There are multiple types of glycogen storage diseases, which can be classified in hepafic and myopalhic forms. Types I, in, IV, VI, and IX affect liver primarily. [Pg.295]

De Moor, R.A., Schweizer, J.J., van Hoek, B., Wasser, M., Vink, R., Maaswinkel-Mooy, P.D. Hepatocellular carcinoma in glycogen storage disease type IV. Arch. Dis. Childh. 2000 82 479-480... [Pg.630]

Glycogen Storage Disease Type IV Branching Enzyme Deficiency. 304... [Pg.295]

Glycogen storage disease type IV Branching enzyme GBEl Andersen disease... [Pg.300]

Bao Y, et al. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. J Clin Invest. 1996 97(4) 941-8. [Pg.306]

Only one case of Type IV disease, amylopectinosis, has been reported the storage polysaccharide had the properties of an amylopectin rather than a glycogen (for example, CL 21.2, X ax of the iodine complex 530 mju), and was only sparingly soluble in water, so that its presence in the liver stimulated the formation of fibrous tissue in that organ. A partial deficiency of branching enz3me was, therefore, indicated. [Pg.405]


See other pages where Type IV glycogen storage disease is mentioned: [Pg.60]    [Pg.630]    [Pg.891]    [Pg.378]    [Pg.1473]    [Pg.1477]    [Pg.60]    [Pg.630]    [Pg.891]    [Pg.378]    [Pg.1473]    [Pg.1477]    [Pg.1614]    [Pg.625]    [Pg.628]    [Pg.484]    [Pg.767]    [Pg.890]    [Pg.1820]    [Pg.296]    [Pg.474]    [Pg.489]    [Pg.324]    [Pg.326]   
See also in sourсe #XX -- [ Pg.891 ]

See also in sourсe #XX -- [ Pg.41 ]




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