Search Results - Ellen Crushell

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  1. 1

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

    Published in Journal of Nutrition and Metabolism (2018-01-01)
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  2. 2

    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... by Tracey A. Conlon, Patricia E. Fitzsimons, Ingrid Borovickova, Fidelma Kirby, Sinéad Murphy, Ina Knerr, Ellen Crushell

    Published in JIMD Reports (2020-09-01)
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  3. 3

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

    Published in Genetics in Medicine Open (2023-01-01)
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  4. 4

    P015: Clinical characterization of classical homocystinuria due to cystathionine-beta synthase deficiency: Results from the ACAPPELLA study by Can Ficicioglu, Melissa Lah, Harvey Levy, Hong Li, Clint Lovell, Cheryl Wong Po Foo, Ellen Crushell, Reena Sharma, Janet Thomas

    Published in Genetics in Medicine Open (2025-01-01)
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  5. 5

    Long-Term Cardiorespiratory, Endocrine, Ophthalmic, and Functional Outcomes in Adult Patients with Mucopolysaccharidosis Type I (Hurler Syndrome) Post Haematopoietic Stem Cell Tran... by 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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  6. 6

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

    Published in Journal of Nutrition and Metabolism (2017-01-01)
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  7. 7

    Finger Prick to Finger Tip: Use of Mobile Phone Technology to Send PKU Blood Results by 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

    Published in Journal of Nutrition and Metabolism (2018-01-01)
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