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Storage material from urine and tissues in the nephropathic phenotype of infantile sialic acid storage disease

✍ Scribed by E. Paschke; W. Gruber; E. Ring; W. Sperl


Publisher
Springer
Year
1992
Tongue
English
Weight
986 KB
Volume
15
Category
Article
ISSN
0141-8955

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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.