Genotype-phenotype correlation in adult-
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Dr John H. J. Wokke; Margreet G. E. M. Ausems; Marie-Josรฉ H. van den Boogaard; E
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Article
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1995
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John Wiley and Sons
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English
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We performed a clinical, biochemical, and genetic study in 16 patients from 11 families with adult-onset acid maltase deficiency. All patients were compound heterozygotes and carried the IVS1( --13T+G) transversion on one alkele; the second allele harbored either a deletion of a T at position 525 in