Hasil Pencarian - Ellen Crushell

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  1. 1
    Emergency department utilisation by homeless children in Dublin, Ireland: a retrospective review

    Emergency department utilisation by homeless children in Dublin, Ireland: a retrospective review oleh Helen Bedford, Ellen Crushell, Niamh O' Brien, Birgitta Joyce, Nuala Quinn

    Diterbitkan 2022-03-01
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  2. 2
    Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma

    Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma oleh Jason Foran, Michael Moore, Ellen Crushell, Ina Knerr, Niamh McSweeney

    Diterbitkan 2021-03-01
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  3. 3
    Amino Acids and Inherited Amino Acid-Related Disorders

    Amino Acids and Inherited Amino Acid-Related Disorders oleh Ina Knerr, Laurie Bernstein, Ellen Crushell, Siobhan O’Sullivan, Jörn Oliver Sass

    Diterbitkan 2018-01-01
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  4. 4
    The challenges of pregnancy management in pyridoxine nonresponsive homocystinuria: The Irish experience

    The challenges of pregnancy management in pyridoxine nonresponsive homocystinuria: The Irish experience oleh Caroline Hart, Jenny McNulty, Melanie Cotter, Fatima Al Jasmi, Ellen Crushell, Ahmad Ardeshir Monavari

    Diterbitkan 2021-09-01
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  5. 5
    Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency: Further evidence of specific biochemical markers which may aid diagnosis

    Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency: Further evidence of specific biochemical markers whi... oleh Tracey A. Conlon, Patricia E. Fitzsimons, Ingrid Borovickova, Fidelma Kirby, Sinéad Murphy, Ina Knerr, Ellen Crushell

    Diterbitkan 2020-09-01
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  6. 6
    O06: Insights from the first genetic evaluation of a longitudinal natural history study in classical homocystinuria (HCU)*

    O06: Insights from the first genetic evaluation of a longitudinal natural history study in classical homocystinuria (HCU)* oleh Tiziano Pramparo, Kimberly Chapman, Ying Chen, Can Ficicioglu, Harvey Levy, Janet Thomas, Sagar Vaidya, Steve Rodems, Ellen Crushell

    Diterbitkan 2023-01-01
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  7. 7
    Long-Term Cardiorespiratory, Endocrine, Ophthalmic, and Functional Outcomes in Adult Patients with Mucopolysaccharidosis Type I (Hurler Syndrome) Post Haematopoietic Stem Cell Transplantation: The Irish Experience

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

    Diterbitkan 2024-07-01
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  8. 8
    Glutaric aciduria type 1: Diagnosis, clinical features and long‐term outcome in a large cohort of 34 Irish patients

    Glutaric aciduria type 1: Diagnosis, clinical features and long‐term outcome in a large cohort of 34 Irish patients oleh Lydia Healy, Meabh O'Shea, Jennifer McNulty, Graham King, Eilish Twomey, Eileen Treacy, Ellen Crushell, Joanne Hughes, Ina Knerr, Ahmad Ardeshir Monavari

    Diterbitkan 2022-07-01
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  9. 9
    Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake

    Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake oleh Orla Purcell, Aoife Coughlan, Tim Grant, Jenny McNulty, Anne Clark, Deirdre Deverell, Philip Mayne, Joanne Hughes, Ahmad Monavari, Ina Knerr, Ellen Crushell

    Diterbitkan 2017-01-01
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  10. 10
    Finger Prick to Finger Tip: Use of Mobile Phone Technology to Send PKU Blood Results

    Finger Prick to Finger Tip: Use of Mobile Phone Technology to Send PKU Blood Results oleh Anne Clark, Deirdre Deverell, Emma Corcoran, Margaret Macauley, Nicola Newcombe, Peter Branagan, Aoife Coughlan, Eimear Daly, Aoibhin Moore Heslin, Ellen Crushell, Joanne Hughes, Ina Knerr, Ahmad Monavari

    Diterbitkan 2018-01-01
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  11. 11
    Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)

    Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR) oleh Shaun C. Bolton, Vina Soran, Mercedes Pineda Marfa, Jackie Imrie, Paul Gissen, Helena Jahnova, Reena Sharma, Simon Jones, Saikat Santra, Ellen Crushell, Miriam Stampfer, Maria Jose Coll, Charlotte Dawson, Toni Mathieson, James Green, Andrea Dardis, Bruno Bembi, Marc C. Patterson, Marie T. Vanier, Tarekegn Geberhiwot

    Diterbitkan 2022-02-01
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  12. 12
    Consensus clinical management guidelines for Niemann-Pick disease type C

    Consensus clinical management guidelines for Niemann-Pick disease type C oleh Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, Uma Ramaswami, Sandra Sirrs, Mercedes Pineda Marfa, Marie T. Vanier, Mark Walterfang, Shaun Bolton, Charlotte Dawson, Bénédicte Héron, Miriam Stampfer, Jackie Imrie, Christian Hendriksz, Paul Gissen, Ellen Crushell, Maria J. Coll, Yann Nadjar, Hans Klünemann, Eugen Mengel, Martin Hrebicek, Simon A. Jones, Daniel Ory, Bruno Bembi, Marc Patterson, on behalf of the International Niemann-Pick Disease Registry (INPDR)

    Diterbitkan 2018-04-01
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  13. 13
    ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

    ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation oleh Eric J. R. Jansen, Sharita Timal, Margret Ryan, Angel Ashikov, Monique van Scherpenzeel, Laurie A. Graham, Hanna Mandel, Alexander Hoischen, Theodore C. Iancu, Kimiyo Raymond, Gerry Steenbergen, Christian Gilissen, Karin Huijben, Nick H. M. van Bakel, Yusuke Maeda, Richard J. Rodenburg, Maciej Adamowicz, Ellen Crushell, Hans Koenen, Darius Adams, Julia Vodopiutz, Susanne Greber-Platzer, Thomas Müller, Gregor Dueckers, Eva Morava, Jolanta Sykut-Cegielska, Gerard J. M. Martens, Ron A. Wevers, Tim Niehues, Martijn A. Huynen, Joris A. Veltman, Tom H. Stevens, Dirk J. Lefeber

    Diterbitkan 2016-05-01
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