Search Results - Pula, Shpresa

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  1. 1
    Raised CK and acute kidney injury following intense exercise in three patients with a history of exercise intolerance due to homozygous mutations in SLC2A9

    Raised CK and acute kidney injury following intense exercise in three patients with a history of exercise intolerance due to homozygous mutations in SLC2A9 by Quinlivan, Ros, Murphy, Elaine, Pula, Shpresa, Pain, Alexandra, Brain, Henrietta, Scopes, Grace, Gjika, Frenki, Ahmadouk, Naim, Manole, Andreea, Houlden, Henry

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  2. 2
    Metabolic disorders presenting as liver disease

    Metabolic disorders presenting as liver disease by Guilder, Laura, Pula, Shpresa, Pierre, Germaine

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  3. 3
    A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency

    A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency by Pula, Shpresa, Urankar, Kathryn, Norman, Andrew, Pierre, Germaine, Langton-Hewer, Simon, Selby, Victoria, Mason, Faye, Vijayakumar, Kayal, McFarland, Robert, Taylor, Robert W., Majumdar, Anirban

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  4. 4
    Nemaline myopathy and secondary mitochondrial dysfunction of complex I

    Nemaline myopathy and secondary mitochondrial dysfunction of complex I by Pula, Shpresa, Chronopoulou, Efstathia, Pierre, Germaine, Vijayakumar, Kayal, Majumdar, Anirban

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  5. 5
    A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency

    A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency by Pula, Shpresa, Urankar, Kathryn, Norman, Andrew, Pierre, Germaine, Langton-Hewer, Simon, Selby, Victoria, Mason, Faye, Vijayakumar, Kayal, McFarland, Robert, Taylor, Robert W, Majumdar, Anirban

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