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Given the severity of her disease, she was interested in considering a clinical trial of PKD-directed treatment but was excluded because she had only one mutated PKLR allele

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doi:10.1111/cns.13207

Piv H, Thelen KM, Van Coster R, Smet J, De Paepe B, Mattila KM, Laakso J, Lehtimki T, von Bergmann K, Ltjohann D, Laaksonen R