Search Results - "Kiuru‐Enari, Sari M.K."

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    A novel mutation of the GAA gene in a Finnish late‐onset pompe disease patient: Clinical phenotype and follow‐up with enzyme replacement therapy

    A novel mutation of the GAA gene in a Finnish late‐onset pompe disease patient: Clinical phenotype and follow‐up with enzyme replacement therapy by Korpela, Mari P., Paetau, Anders, Löfberg, Mervi I., Timonen, Marjut H., Lamminen, Antti E., Kiuru‐Enari, Sari M.K.

    Published in Muscle & nerve (01-07-2009)
    “…Pompe disease is a rare, progressive disease leading to skeletal muscle weakness due to deficiency of the acid α‐glucosidase (GAA) enzyme. Herein we report the…”
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  2. 2
    A novel mutation of the GAA gene in a Finnish late-onset pompe disease patient: Clinical phenotype and follow-up with enzyme replacement therapy

    A novel mutation of the GAA gene in a Finnish late-onset pompe disease patient: Clinical phenotype and follow-up with enzyme replacement therapy by Korpela, Mari P., Paetau, Anders, Löfberg, Mervi I., Timonen, Marjut H., Lamminen, Antti E., Kiuru-Enari, Sari M.K.

    Published in Muscle & Nerve (01-07-2009)
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