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Prenatal diagnosis of lysosomal storage diseases

โœ Scribed by Kleijer, W. J. ;Sachs, E. S. ;Niermeijer, M. F.


Publisher
Springer
Year
1975
Tongue
English
Weight
151 KB
Volume
7
Category
Article
ISSN
0018-2214

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Glycogen storage disease type Ia (GSD la, von Gierke disease) is an autosomal recessive inborn error of metabolism caused by the deficiency of ~-glucose-6-phosphatase (G6Pase). Since this enzyme is expressed primarily in hepatocytes, couples at risk for GSD type Ia relied on fetal liver biopsy for p