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007—Accurate Diagnosis of Glycogen Storage Disease in a Child Presenting With Hepatomegaly and Hypoglycemia

✍ Scribed by Amanda J. Beattie; Lori P. Halaby; Charles A. Stanley


Book ID
116826475
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
57 KB
Volume
22
Category
Article
ISSN
1532-8449

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The autosomal recessive disorder Glycogen Storage Disease Type II (GSDII) is caused by a deficiency in the lysosomal enzyme acid -glucosidase. We have optimised a procedure to use fluorescent DNA sequencing technology to screen for mutations within the -glucosidase gene from UK patients with GSDII.