Novel mutations in African American pati
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Nina Raben; Eunice Lee; Laura Lee; Rochelle Hirschhorn; Paul H. Plotz
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Article
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1999
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John Wiley and Sons
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English
β 74 KB
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The infantile form of GSD II (an inherited deficiency of the lysosomal enzyme, acid Ξ± Ξ±glucosidase, Pompe disease) is a severe and invariably fatal disease characterized by a rapidly progressive generalized hypotonia, hepatomegaly, and cardiomegaly. We have recently demonstrated that African America