Insights into the Pathophysiology of Infertility in Females with Classical Galactosaemia

od Abidin, Zaza, Treacy, Eileen P.
Izdano u Int J Mol Sci (2019)

Clinical utility gene card for: Trimethylaminuria

od Shephard, Elizabeth A, Treacy, Eileen P, Phillips, Ian R
Izdano 2012

Clinical utility gene card for: Trimethylaminuria – update 2014

od Shephard, Elizabeth A, Treacy, Eileen P, Phillips, Ian R
Izdano u Eur J Hum Genet (2015)

Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review

od Maratha, Ashwini, Colhoun, Hugh-Owen, Knerr, Ina, Coss, Karen P., Doran, Peter, Treacy, Eileen P.
Izdano u JIMD Rep (2016)

Impact of trimethylaminuria on daily psychosocial functioning

od Roddy, Daniel, McCarthy, Philomena, Nerney, Darragh, Mulligan‐Rabbitt, Jennifer, Smith, Edwin, Treacy, Eileen P.
Izdano u JIMD Rep (2020)

Neurocognitive assessments and long-term outcome in an adult with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

od Stepien, Karolina M., McCarthy, Philomena, Treacy, Eileen P., O'Byrne, James J., Pastores, Gregory M.
Izdano u Mol Genet Metab Rep (2018)

Leptin Levels in Children and Adults with Classic Galactosaemia

od Knerr, Ina, Coss, Karen P., Doran, Peter P., Hughes, Joanne, Wareham, Nick, Burling, Keith, Treacy, Eileen P.
Izdano 2012

Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research

od van Weeghel, Michel, Welling, Lindsey, Treacy, Eileen P., Wanders, Ronald J. A., Ferdinandusse, Sacha, Bosch, Annet M.
Izdano u Orphanet J Rare Dis (2018)

Long‐term outcomes in a 25‐year‐old female affected with lipin‐1 deficiency

od Stepien, Karolina M., Schmidt, Wolfgang M., Bittner, Reginald E., O'Toole, Orna, McNamara, Brian, Treacy, Eileen P.
Izdano u JIMD Rep (2019)

Polymorphisms of the Flavin containing monooxygenase 3 (FMO3) gene do not predispose to essential hypertension in Caucasians

od Dolan, Ciara, Shields, Denis C, Stanton, Alice, O'Brien, Eoin, Lambert, Deborah M, O'Brien, John K, Treacy, Eileen P
Izdano 2005

Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1

od Stepien, Karolina M., Pastores, Gregory M., Hendroff, Una, McCormick, Ciara, Fitzimons, Patricia, Khawaja, Naveed, Borovickova, Ingrid, Treacy, Eileen P.
Izdano u JIMD Rep (2018)

IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia

od Stockmann, Henning, Coss, Karen P., Rubio-Gozalbo, M. Estela, Knerr, Ina, Fitzgibbon, Maria, Maratha, Ashwini, Wilson, James, Rudd, Pauline, Treacy, Eileen P.
Izdano u JIMD Rep (2015)

The genetic and biochemical basis of trimethylaminuria in an Irish cohort

od Doyle, Samantha, O'Byrne, James J., Nesbitt, Mandy, Murphy, Daniel N., Abidin, Zaza, Byrne, Niall, Pastores, Gregory, Kirk, Richard, Treacy, Eileen P.
Izdano u JIMD Rep (2019)

Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia

od 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.
Izdano u JIMD Rep (2017)

Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis

od 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.
Izdano u JIMD Rep (2016)

Fertility preservation in female classic galactosemia patients

od van Erven, Britt, Gubbels, Cynthia S, van Golde, Ron J, Dunselman, Gerard A, Derhaag, Josien G, de Wert, Guido, Geraedts, Joep P, Bosch, Annet M, Treacy, Eileen P, Welt, Corrine K, Berry, Gerard T, Rubio-Gozalbo, M Estela
Izdano 2013

Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions

od Colhoun, Hugh-Owen, Rubio Gozalbo, Estela M., Bosch, Annet M., Knerr, Ina, Dawson, Charlotte, Brady, Jennifer, Galligan, Marie, Stepien, Karolina, O’Flaherty, Roisin, Catherine Moss, C., Peter Barker, P., Fitzgibbon, Maria, Doran, Peter P., Treacy, Eileen P.
Izdano u Orphanet J Rare Dis (2018)

The role of primary care in management of rare diseases in Ireland

od Byrne, Niall, Turner, Jacqueline, Marron, Rita, Lambert, Deborah M., Murphy, Daniel N., O’Sullivan, Grace, Mason, Maureen, Broderick, Frank, Burke, Mary C., Casey, Sheila, Doyle, Marguerite, Gibney, David, Mason, Fergus, Molony, David, Ormond, Deirdre, O’ Sé, Colm, O’Shea, Conor, Treacy, Eileen P.
Izdano u Ir J Med Sci (2020)

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure

od de Ru, Minke H, Teunissen, Quirine GA, van der Lee, Johanna H, Beck, Michael, Bodamer, Olaf A, Clarke, Lorne A, Hollak, Carla E, Lin, Shuan-Pei, Rojas, Maria-Verónica Muñoz, Pastores, Gregory M, Raiman, Julian A, Scarpa, Maurizio, Treacy, Eileen P, Tylki-Szymanska, Anna, Wraith, J Edmond, Zeman, Jiri, Wijburg, Frits A
Izdano 2012

Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers

od Welsink-Karssies, Mendy M, Ferdinandusse, Sacha, Geurtsen, Gert J, Hollak, Carla E M, Huidekoper, Hidde H, Janssen, Mirian C H, Langendonk, Janneke G, van der Lee, Johanna H, O’Flaherty, Roisin, Oostrom, Kim J, Roosendaal, Stefan D, Rubio-Gozalbo, M Estela, Saldova, Radka, Treacy, Eileen P, Vaz, Fred M, de Vries, Maaike C, Engelen, Marc, Bosch, Annet M
Izdano u Brain Commun (2020)