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  1. No Access

    Article

    Dihydropyrimidine dehydrogenase gene variants for predicting grade 4-5 fluoropyrimidine-induced toxicity: FUSAFE individual patient data meta-analysis

    Dihydropyrimidine dehydrogenase (DPD) deficiency is the main known cause of life-threatening fluoropyrimidine (FP)-induced toxicities. We conducted a meta-analysis on individual patient data to assess the cont...

    Gwénaël Le Teuff, Nathalie Cozic, Jean-Christophe Boyer… in British Journal of Cancer (2024)

  2. Article

    Open Access

    Clinical implementation of pre-treatment DPYD genoty** in capecitabine-treated metastatic breast cancer patients

    Metastatic breast cancer (mBC) patients with DPYD genetic variants linked to loss of dihydropyrimidine dehydrogenase (DPD) activity are at risk of severe capecitabine-associated toxicities. However, prospective D...

    Chara Stavraka, Athanasios Pouptsis, Leroy Okonta… in Breast Cancer Research and Treatment (2019)

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  3. Article

    Open Access

    Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease

    Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by mutations in the UMOD gene (ADTKD-UMOD) is considered rare and often remains unrecognised. We aimed to establish the prevalence of genetic ki...

    Christine Gast, Anthony Marinaki, Monica Arenas-Hernandez, Sara Campbell… in BMC Nephrology (2018)

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  4. No Access

    Article

    From juvenile hyperuricaemia to dysfunctional uromodulin: an ongoing metamorphosis

    Familial juvenile hyperuricaemic nephropathy (FJHN) is a diagnosis that is easily missed. It has taken a long time to clarify the pathophysiology and prevalence of this disease entity which has been shown to b...

    Gopalakrishnan Venkat-Raman, Christine Gast, Anthony Marinaki… in Pediatric Nephrology (2016)

  5. No Access

    Article

    Modern diagnostic approach to hereditary xanthinuria

    Hereditary xanthinuria (HX) is a rare inherited disorder caused by a deficiency of xanthine dehydrogenase/oxidase (XDH/XO). Missing XDH/XO activity leads to undetectable levels of uric acid excessively replace...

    Martin Mraz, Olha Hurba, Josef Bartl, Zdenek Dolezel, Anthony Marinaki… in Urolithiasis (2015)

  6. No Access

    Article

    SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout

    Uric acid is the end product of purine metabolism in humans and great apes, which have lost hepatic uricase activity, leading to uniquely high serum uric acid concentrations (200–500 μM) compared with other ma...

    Veronique Vitart, Igor Rudan, Caroline Hayward, Nicola K Gray… in Nature Genetics (2008)

  7. No Access

    Article

    Thiopurine Treatment in Inflammatory Bowel Disease

    Sharon J. Gardiner, Evan J. Begg, Ashis Sau, Anthony Marinaki… in Clinical Pharmacokinetics (2007)