Suchergebnisse - Treacy, Eileen

Insights into the Pathophysiology of Infertility in Females with Classical Galactosaemia von Abidin, Zaza, Treacy, Eileen P.

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Clinical utility gene card for: Trimethylaminuria von Shephard, Elizabeth A, Treacy, Eileen P, Phillips, Ian R

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Clinical utility gene card for: Trimethylaminuria – update 2014 von Shephard, Elizabeth A, Treacy, Eileen P, Phillips, Ian R

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Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review von Maratha, Ashwini, Colhoun, Hugh-Owen, Knerr, Ina, Coss, Karen P., Doran, Peter, Treacy, Eileen P.

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A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland von Gunne, Emer, McGarvey, Cliona, Hamilton, Karina, Treacy, Eileen, Lambert, Deborah M., Lynch, Sally Ann

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Impact of trimethylaminuria on daily psychosocial functioning von Roddy, Daniel, McCarthy, Philomena, Nerney, Darragh, Mulligan‐Rabbitt, Jennifer, Smith, Edwin, Treacy, Eileen P.

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

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Leptin Levels in Children and Adults with Classic Galactosaemia von Knerr, Ina, Coss, Karen P., Doran, Peter P., Hughes, Joanne, Wareham, Nick, Burling, Keith, Treacy, Eileen P.

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Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research von van Weeghel, Michel, Welling, Lindsey, Treacy, Eileen P., Wanders, Ronald J. A., Ferdinandusse, Sacha, Bosch, Annet M.

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Ten‐year retrospective review (2003‐2013) of 56 inpatient admissions to stabilize elevated phenylalanine levels von Clark, Anne, Merrigan, Christine, Crushell, Ellen, Hughes, Joanne, Knerr, Ina, Monavari, Ardeshir A., Treacy, Eileen, Coughlan, Aoife

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Long‐term outcomes in a 25‐year‐old female affected with lipin‐1 deficiency von Stepien, Karolina M., Schmidt, Wolfgang M., Bittner, Reginald E., O'Toole, Orna, McNamara, Brian, Treacy, Eileen P.

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Polymorphisms of the Flavin containing monooxygenase 3 (FMO3) gene do not predispose to essential hypertension in Caucasians von Dolan, Ciara, Shields, Denis C, Stanton, Alice, O'Brien, Eoin, Lambert, Deborah M, O'Brien, John K, Treacy, Eileen P

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Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1 von Stepien, Karolina M., Pastores, Gregory M., Hendroff, Una, McCormick, Ciara, Fitzimons, Patricia, Khawaja, Naveed, Borovickova, Ingrid, Treacy, Eileen P.

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IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia von Stockmann, Henning, Coss, Karen P., Rubio-Gozalbo, M. Estela, Knerr, Ina, Fitzgibbon, Maria, Maratha, Ashwini, Wilson, James, Rudd, Pauline, Treacy, Eileen P.

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The genetic and biochemical basis of trimethylaminuria in an Irish cohort von Doyle, Samantha, O'Byrne, James J., Nesbitt, Mandy, Murphy, Daniel N., Abidin, Zaza, Byrne, Niall, Pastores, Gregory, Kirk, Richard, Treacy, Eileen P.

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

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Management of pregnancy in a patient with long‐chain 3‐hydroxyacyl CoA dehydrogenase deficiency von Shakerdi, Loai A., McNulty, Jenny, Gillman, Barbara, McCarthy, Claire M., Ivory, Jessica, Sheerin, Alison, O'Byrne, James J., Donnelly, Jennifer C., Treacy, Eileen P.

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Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia von Welling, Lindsey, Waisbren, Susan E., Antshel, Kevin M., Colhoun, Hugh-Owen, Gautschi, Matthias, Grünewald, Stephanie, Holman, Rebecca, van der Lee, Johanna H., Treacy, Eileen P., Bosch, Annet M.

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Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis von van Erven, Britt, Welling, Lindsey, van Calcar, Sandra C., Doulgeraki, Artemis, Eyskens, François, Gribben, Joanna, Treacy, Eileen P., Vos, Rein, Waisbren, Susan E., Rubio-Gozalbo, M. Estela, Bosch, Annet M.

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Abnormal N‐glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake von Treacy, Eileen P., Vencken, Sebastian, Bosch, Annet M., Gautschi, Matthias, Rubio‐Gozalbo, Estela, Dawson, Charlotte, Nerney, Darragh, Colhoun, Hugh Owen, Shakerdi, Loai, Pastores, Gregory M., O'Flaherty, Roisin, Saldova, Radka

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