Insights into the Pathophysiology of Infertility in Females with Classical Galactosaemia

Por Abidin, Zaza, Treacy, Eileen P.
Publicado no Int J Mol Sci (2019)

Clinical utility gene card for: Trimethylaminuria

Por Shephard, Elizabeth A, Treacy, Eileen P, Phillips, Ian R
Publicado em 2012

Clinical utility gene card for: Trimethylaminuria – update 2014

Por Shephard, Elizabeth A, Treacy, Eileen P, Phillips, Ian R
Publicado no Eur J Hum Genet (2015)

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

Por Maratha, Ashwini, Colhoun, Hugh-Owen, Knerr, Ina, Coss, Karen P., Doran, Peter, Treacy, Eileen P.
Publicado no JIMD Rep (2016)

Impact of trimethylaminuria on daily psychosocial functioning

Por Roddy, Daniel, McCarthy, Philomena, Nerney, Darragh, Mulligan‐Rabbitt, Jennifer, Smith, Edwin, Treacy, Eileen P.
Publicado no JIMD Rep (2020)

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

Por Stepien, Karolina M., McCarthy, Philomena, Treacy, Eileen P., O'Byrne, James J., Pastores, Gregory M.
Publicado no Mol Genet Metab Rep (2018)

Leptin Levels in Children and Adults with Classic Galactosaemia

Por Knerr, Ina, Coss, Karen P., Doran, Peter P., Hughes, Joanne, Wareham, Nick, Burling, Keith, Treacy, Eileen P.
Publicado em 2012

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

Por van Weeghel, Michel, Welling, Lindsey, Treacy, Eileen P., Wanders, Ronald J. A., Ferdinandusse, Sacha, Bosch, Annet M.
Publicado no Orphanet J Rare Dis (2018)

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

Por Stepien, Karolina M., Schmidt, Wolfgang M., Bittner, Reginald E., O'Toole, Orna, McNamara, Brian, Treacy, Eileen P.
Publicado no JIMD Rep (2019)

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

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

Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1

Por Stepien, Karolina M., Pastores, Gregory M., Hendroff, Una, McCormick, Ciara, Fitzimons, Patricia, Khawaja, Naveed, Borovickova, Ingrid, Treacy, Eileen P.
Publicado no JIMD Rep (2018)

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

Por Stockmann, Henning, Coss, Karen P., Rubio-Gozalbo, M. Estela, Knerr, Ina, Fitzgibbon, Maria, Maratha, Ashwini, Wilson, James, Rudd, Pauline, Treacy, Eileen P.
Publicado no JIMD Rep (2015)

The genetic and biochemical basis of trimethylaminuria in an Irish cohort

Por Doyle, Samantha, O'Byrne, James J., Nesbitt, Mandy, Murphy, Daniel N., Abidin, Zaza, Byrne, Niall, Pastores, Gregory, Kirk, Richard, Treacy, Eileen P.
Publicado no JIMD Rep (2019)

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

Por 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.
Publicado no JIMD Rep (2017)

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

Por 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.
Publicado no JIMD Rep (2016)

Fertility preservation in female classic galactosemia patients

Por 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
Publicado em 2013

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

Por 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.
Publicado no Orphanet J Rare Dis (2018)

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

Por 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.
Publicado no Ir J Med Sci (2020)

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

Por 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
Publicado em 2012

Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers

Por 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
Publicado no Brain Commun (2020)