Showing 1 - 9 results of 9 for search 'Karolina M. Stepien', query time: 0.02s Refine Results
  1. 1
    Acute Renal Failure, Microangiopathic Haemolytic Anemia, and Secondary Oxalosis in a Young Female Patient

    Acute Renal Failure, Microangiopathic Haemolytic Anemia, and Secondary Oxalosis in a Young Female Patient by Karolina M. Stepien, Peter Prinsloo, Tony Hitch, Thomas A. McCulloch, Rebecca Sims

    Published 2011-01-01
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  2. 2
    Cognition and wellbeing in middle-aged early treated people with phenylketonuria: Preliminary results and methodological lessons

    Cognition and wellbeing in middle-aged early treated people with phenylketonuria: Preliminary results and methodological lessons by Lucie Thomas, Lynne Aitkenhead, Karolina M. Stepien, Alison Woodall, Anita Macdonald, Cristina Romani

    Published 2024-12-01
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  3. 3
    Characteristics of Inherited Metabolic Disorders Following Kidney Transplantation: A 13-Year Observational Study

    Characteristics of Inherited Metabolic Disorders Following Kidney Transplantation: A 13-Year Observational Study by Kirsty Dickson, Henry H. L. Wu, Reena Sharma, Karolina M. Stepien, Ana Jovanovic, Rajkumar Chinnadurai

    Published 2024-10-01
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  4. 4
    Perspectives on long-term medical management of urea cycle disorders: insights from a survey of UK healthcare professionals

    Perspectives on long-term medical management of urea cycle disorders: insights from a survey of UK healthcare professionals by Karolina M. Stepien, Melanie McSweeney, Antonio Ochoa-Ferraro, Roshni Vara, Paul Riley, Megan Smith

    Published 2025-03-01
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  5. 5
    Real-world treatment with elosulfase alfa in patients with MPS IVA is associated with improved endurance over time

    Real-world treatment with elosulfase alfa in patients with MPS IVA is associated with improved endurance over time by Barbara K. Burton, Karolina M. Stepien, Philippe M. Campeau, Jaim Sutton, Abigail Hunt, Pascal Reisewitz, David Hinds

    Published 2025-01-01
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  6. 6
    Real-world clinical outcomes in adult patients with Fabry disease: A 20-year retrospective observational cohort study from a single centre

    Real-world clinical outcomes in adult patients with Fabry disease: A 20-year retrospective observational cohort study from a single centre by Eamon P. McCarron, Rajkumar Chinnadurai, Jonathan Meyer, Thomas Anderson, Karolina M. Stepien, Reena Sharma, Peter Woolfson, Ana Jovanovic

    Published 2025-06-01
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  7. 7
    The Management and Clinical Outcomes of Pregnancy in a Female With Glycogen Storage Disease Type IIIA Caused by Rare Variant

    The Management and Clinical Outcomes of Pregnancy in a Female With Glycogen Storage Disease Type IIIA Caused by Rare Variant by Nuria Puente‐Ruiz, Saru Palaniappan, Alison Woodall, Robert Cooper, Allyson Terry, Andrew Oldham, Abigail Rousseau, Christopher Campbell, Pradeep Vasudevan, Karolina M. Stepien

    Published 2025-07-01
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  8. 8
    Disease burden among patients with Arginase 1 deficiency and their caregivers: A multinational, cross‐sectional survey

    Disease burden among patients with Arginase 1 deficiency and their caregivers: A multinational, cross‐sectional survey by Sara Olofsson, Sofia Löfvendahl, Julia Widén, Lena Jacobson, Peter Lindgren, Karolina M. Stepien, Jean‐Baptiste Arnoux, Maria Luz Couce Pico, Elisa Leão Teles, Mattias Rudebeck

    Published 2024-11-01
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  9. 9
    Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey

    Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey by Karolina M. Stepien, Sophie Thomas, Julia B. Hennermann, Christina Lampe, Nicole M. Muschol, Maria Juliana Ballesta-Martínez, Jordi Cruz, Mónica López-Rodríguez, Anneliese Barth, Martin Magner, Allan M. Lund, Vasilica Plaiasu, Andrea Ballabeni, Francesca Donà, Heather M. Morgan, Nathalie Guffon

    Published 2025-05-01
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