Rezultaty - Ellen Crushell

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

Dokumenty pełnotekstowe

Expanding the Phenotypic Spectrum of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency in Childhood: A Case Series od Eimear Loftus, Zaineb Elbishari, Patricia Fitzsimons, Caoimhe Howard, Yusra Sheikh, Bryan Lynch, Ellen Crushell, Ina Knerr

Dokumenty pełnotekstowe

IMPACT study: measuring the impact of caregiving on families and healthcare professionals of children and adults living with mucopolysaccharidoses in Ireland od Suja Somanadhan, Hannah Bristow, Ellen Crushell, Gregory Pastores, Emma Nicholson, Thilo Kroll, Philip J. Larkin, Aoife Brinkley

Dokumenty pełnotekstowe

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

Dokumenty pełnotekstowe

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

Dokumenty pełnotekstowe

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

Dokumenty pełnotekstowe

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

Dokumenty pełnotekstowe

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

Dokumenty pełnotekstowe