Hasil Pencarian - Oliver Heath

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  1. 1
    Early‐onset vitamin B6‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature

    Early‐onset vitamin B6‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature oleh Oliver Heath, James Pitt, Simone Mandelstam, Carl Kuschel, Anand Vasudevan, Sarah Donoghue

    Diterbitkan 2021-03-01
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  2. 2
    Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review

    Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review oleh Oliver Heath, Dinusha Pandithan, James Pitt, Elena Savva, Laura Raiti, Jenny Bracken, Moya Vandeleur, Martin B. Delatycki, Joy Yaplito‐Lee, Winita Hardikar, Rebecca Halligan

    Diterbitkan 2023-09-01
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  3. 3
    Diagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia‐induced acute pancreatitis

    Diagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia‐induced acute pancreatitis oleh Oliver Heath, Brooke Allender, Joel Smith, Elena Savva, Lucy Spencer, Elizabeth G. Bannister, Natasha J. Brown, Maureen S. Evans, Sharmila Kiss, Thomas H. Rozen, Joy Yaplito‐Lee

    Diterbitkan 2024-07-01
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  4. 4
    Biallelic Variants in <i>PYROXD2</i> Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

    Biallelic Variants in <i>PYROXD2</i> Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function oleh Nicole J. Van Bergen, Daniella H. Hock, Lucy Spencer, Sean Massey, Tegan Stait, Zornitza Stark, Sebastian Lunke, Ain Roesley, Heidi Peters, Joy Yaplito Lee, Anna Le Fevre, Oliver Heath, Cristina Mignone, Joseph Yuan-Mou Yang, Monique M. Ryan, Colleen D’Arcy, Margot Nash, Sile Smith, Nikeisha J. Caruana, David R. Thorburn, David A. Stroud, Susan M. White, John Christodoulou, Natasha J. Brown

    Diterbitkan 2022-01-01
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