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Diagnosis of glycogen storage disease

✍ Scribed by Y. S. Shin


Publisher
Springer
Year
1990
Tongue
English
Weight
979 KB
Volume
13
Category
Article
ISSN
0141-8955

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Glycogen storage disease type l a (GSD la), a severe metabolic disorder, is caused by the absence of glucose-6-phosphatase (G6Pase) activity. Diagnosis is currently established by demonstrating the lack of G6Pase activity in the patient's liver specimen. Enzymatic diagnosis cannot be performed in ch