Search Results - "Pietilä‐Effati, Päivi"

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    Long‐term effectiveness of enzyme replacement therapy in Fabry disease with the p.Arg227Ter variant: Fabry disease in Ostrobothnia (FAST) study by PietiläEffati, Päivi, Saarinen, Jukka T., Löyttyniemi, Eliisa, Saarenhovi, Maria, Autio, Reijo, Kantola, Ilkka

    “…Fabry disease (FD) is an X chromosome‐linked, life‐threatening lysosomal disease caused by one of more than 1000 currently known variants in the…”
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    Journal Article
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    Pulmonary manifestations and the effectiveness of enzyme replacement therapy in Fabry Disease with the p. Arg227Ter (p.R227) mutation by PietiläEffati, Päivi, Söderström, Johan, Saarinen, Jukka T., Löyttyniemi, Eliisa, Kantola, Ilkka

    Published in Molecular genetics & genomic medicine (01-05-2022)
    “…Background Fabry disease (FD) is caused by a defect in α‐galactosidase A gene (GLA) which leads to a progressive accumulation of neutral shingolipids, mainly…”
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    Renal sympathetic denervation in treating drug-resistant hypertension in a patient on hemodialysis by Pietilä-Effati, Päivi M, Salmela, Anna K, Niemi, Risto T, Ylitalo, Antti S, Koistinen, M Juhani

    Published in Journal of hypertension (01-02-2016)
    “…A 26-year-old man had an end-stage renal disease because of a neurogenic urinary bladder with a vesicourinary reflux. The first kidney transplant was lost in…”
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    Intravascular Renal Denervation in Renal Dialysis Patients with Uncontrolled Hypertension: A Case Series of Four Patients by Pietilä-Effati, Päivi M, Salmela, Anna K, Koistinen, M Juhani

    Published in The American journal of case reports (21-08-2018)
    “…BACKGROUND Hypertension is a common complication of renal dialysis and is inadequately controlled in approximately one-third of patients. Intravascular renal…”
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    Natural course of Fabry disease with the p. Arg227Ter (p.R227) mutation in Finland: Fast study by PietiläEffati, Päivi, Saarinen, Jukka T., Löyttyniemi, Eliisa, Autio, Reijo, Saarenhovi, Maria, Haanpää, Maria K., Kantola, Ilkka

    Published in Molecular genetics & genomic medicine (01-10-2019)
    “…Background Fabry disease is caused by a deficient or an absent alfa‐galactosidase A activity and is an X‐linked disorder that results in organ damage and a…”
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    Journal Article
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    Renal denervation in patients who do not respond to cardiac resynchronization therapy by Pietilä-Effati, Päivi, Höglund, Mathias, Käräjämäki, Aki, Höglund, Filip, Nabb, Anne-Maria, Matila, Eija, Koistinen, M Juhani

    Published in Scandinavian cardiovascular journal : SCJ (31-12-2022)
    “…Cardiac resynchronization therapy (CRT) reduces the morbidity and mortality in advanced heart failure (HF) in about two-thirds of the patients. Approximately…”
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    The natural course of Fabry disease in a Finnish R227X cohort by Pietilä-Effati, Päivi, Saarinen, Jukka T., Löyttyniemi, Eliisa, Autio, Reijo, Saarenhovi, Maria, Kantola, Ilkka

    Published in Molecular genetics and metabolism (01-02-2019)
    “…Fabry disease caused by a genetic deficiency of alfagalactosidase activity results in accumulation of glycosphingolipids especially in vascular endothelium…”
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    Journal Article
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