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Retrospective diagnosis of glycogen storage disease type II by use of a newborn-screening card

✍ Scribed by Gabriela Niizawa; Celina Levin; Claudio Aranda; Mariana Blanco; Néstor A. Chamoles


Book ID
116350222
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
66 KB
Volume
359
Category
Article
ISSN
0009-8981

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PRENATAL DIAGNOSIS OF GLYCOGEN STORAGE D
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Current laboratory diagnosis for glycogen storage disease type la (GSD la) is established by functional enzyme assay to demonstrate the deficiency of glucosed-phosphate phosphatase (G6Pase). This procedure requires liver biopsy and is impractical for routine prenatal diagnosis owing to the high morb