検索結果 - Karolina M. Stepien

Editorial: Cardiac issues in adults with mucopolysaccharidosis 著者: Karolina M. Stepien, Karolina M. Stepien, Elizabeth A. Braunlin

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Unmet Cardiac Clinical Needs in Adult Mucopolysaccharidoses 著者: Karolina M. Stepien, Elizabeth A. Braunlin

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GM1 Gangliosidosis—A Mini-Review 著者: Elena-Raluca Nicoli, Ida Annunziata, Alessandra d’Azzo, Alessandra d’Azzo, Frances M. Platt, Cynthia J. Tifft, Cynthia J. Tifft, Karolina M. Stepien, Karolina M. Stepien

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Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review 著者: Patryk Lipiński, Karolina M. Stępień, Elżbieta Ciara, Anna Tylki-Szymańska, Aleksandra Jezela-Stanek

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

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

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Retrospective analysis of arginase 1 deficiency progression in adults over 5 years at a single metabolic centre 著者: Reena Sharma, John Bassett, Karolina M. Stepien, Andrew Oldham, Ana Jovanovic, Alison Woodall, Diane Green

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

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

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Neurocognitive assessments and long-term outcome in an adult with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency 著者: Karolina M. Stepien, Philomena McCarthy, Eileen P. Treacy, James J. O'Byrne, Gregory M. Pastores

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Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency 著者: Majitha Seyed Ibrahim, Jessica I. Gold, Alison Woodall, Berna Seker Yilmaz, Paul Gissen, Karolina M. Stepien

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

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

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

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Long-Term Cardiorespiratory, Endocrine, Ophthalmic, and Functional Outcomes in Adult Patients with Mucopolysaccharidosis Type I (Hurler Syndrome) Post Haematopoietic Stem Cell Tran... 著者: Karolina M. Stepien, Max Treacy, Roulla Katiri, Eileen P. Treacy, Gregory Pastores, Alison Sheerin, Donal Brosnahan, Ellen Crushell, James J. O’Byrne

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Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel 著者: Karolina M. Stepien, Alexander Broomfield, Duncan Cole, Patrick B. Deegan, Stuart Forshaw-Hulme, Derralynn Hughes, Ana Jovanovic, Liz Morris, Alison Muir, Uma Ramaswami

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Iron metabolism and hematological abnormalities in adult patients affected with mucopolysaccharidoses 著者: Gabija Kaciulyte, Goknur Yorulmaz, Reena Sharma, Simon A. Jones, Robert Wynn, Heather Church, Karen Tylee, Muzaffer Bilgin, Ana Jovanovic, Peter Woolfson, Karolina M. Stepien

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Disease burden among patients with Arginase 1 deficiency and their caregivers: A multinational, cross‐sectional survey 著者: 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

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Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy 著者: Eleanor Palmer, Karolina M. Stepien, Christopher Campbell, Stephanie Barton, Christos Iosifidis, Arunabha Ghosh, Alexander Broomfield, Alison Woodall, Gisela Wilcox, Panagiotis I. Sergouniotis, Graeme C. Black

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Transition of patients with Gaucher disease type 1 from pediatric to adult care: results from two international surveys of patients and health care professionals 著者: Karolina M. Stepien, Irena Žnidar, Beata Kieć-Wilk, Beata Kieć-Wilk, Angel Jones, Daniela Castillo-García, Magy Abdelwahab, Shoshana Revel-Vilk, Shoshana Revel-Vilk, Ella Lineham, Derralynn Hughes, Uma Ramaswami, Tanya Collin-Histed

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