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The electrophoretic pattern and activities of acid and neutral maltase of cultivated fibroblasts and amniotic fluid cells from controls and patients with the variant of glycogen storage disease Type II (Pompe's disease)

✍ Scribed by J.F. Koster; R.G. Slee; W.C. Hülsmann; M.F. Niermeijer

Book ID: 115819481
Publisher: Elsevier Science
Year: 1972
Tongue: English
Weight: 208 KB
Volume: 40
Category: Article
ISSN: 0009-8981
DOI: 10.1016/0009-8981(72)90288-4

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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.