Two extremes of the clinical spectrum of
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Marian A. Kroos; Magna Van der Kraan; Otto P. Van Diggelen; Wim J. Kleijer; Arno
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Article
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1997
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John Wiley and Sons
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English
β 158 KB
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Mutation analysis was performed in a nonconsanguineous Dutch caucasian family with a grandfather presenting the first symptoms of glycogen storage disease type II (acid alpha-glucosidase deficiency) in the sixth decade of life and a grandchild with onset of symptoms shortly after birth. The grandfat