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Visual Hallucinations in a Patient with Adult Onset Acid Maltase Deficiency Disorder

โœ Scribed by Ritesh Patil; Jack L. DePriest


Book ID
107413590
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
174 KB
Volume
24
Category
Article
ISSN
0884-8734

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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