Publication details

A family with multiple members affected by late-onset Pompe disease due to the R224W (670>T) mutation: Potential candidates for enzyme replacement therapy (abstract).

Authors

VONDRÁČEK Petr HERMANOVÁ Markéta OŠLEJŠKOVÁ Hana ŠOUKALOVÁ Jana GAILLYOVÁ Renata

Year of publication 2007
Type Article in Periodical
Magazine / Source Neuromuscular Disorders
MU Faculty or unit

Faculty of Medicine

Citation
Field Genetics and molecular biology
Keywords Pompe Disease
Description A family with multiple members affected by late-onset Pompe disease due to the R224W (670>T) mutation is described and discussed.

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