17 research outputs found
Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing
Full text linkSTRUCTURAL AND FUNCTIONAL-CHANGES OF LYSOSOMAL ACID ALPHA-GLUCOSIDASE DURING INTRACELLULAR-TRANSPORT AND MATURATION.
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Subtle involuntary movements are not reliable indicators of incipient Huntington's disease
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Subtle involuntary movements are not reliable indicators of incipient Huntington's disease
No full textGlycogen storage disease type II: identifation of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene
No full textGlycogen storage disease type II: identifation of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene
No full textGlycogen storage disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry
No full textGlycogen storage disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry
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