Insights into the Pathophysiology of Infertility in Females with Classical Galactosaemia

著者: Abidin, Zaza, Treacy, Eileen P.
出版年 Int J Mol Sci (2019)

Clinical utility gene card for: Trimethylaminuria

著者: Shephard, Elizabeth A, Treacy, Eileen P, Phillips, Ian R
出版事項 2012

Clinical utility gene card for: Trimethylaminuria – update 2014

著者: Shephard, Elizabeth A, Treacy, Eileen P, Phillips, Ian R
出版年 Eur J Hum Genet (2015)

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

著者: Maratha, Ashwini, Colhoun, Hugh-Owen, Knerr, Ina, Coss, Karen P., Doran, Peter, Treacy, Eileen P.
出版年 JIMD Rep (2016)

Impact of trimethylaminuria on daily psychosocial functioning

著者: Roddy, Daniel, McCarthy, Philomena, Nerney, Darragh, Mulligan‐Rabbitt, Jennifer, Smith, Edwin, Treacy, Eileen P.
出版年 JIMD Rep (2020)

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

著者: Stepien, Karolina M., McCarthy, Philomena, Treacy, Eileen P., O'Byrne, James J., Pastores, Gregory M.
出版年 Mol Genet Metab Rep (2018)

Leptin Levels in Children and Adults with Classic Galactosaemia

著者: Knerr, Ina, Coss, Karen P., Doran, Peter P., Hughes, Joanne, Wareham, Nick, Burling, Keith, Treacy, Eileen P.
出版事項 2012

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

著者: van Weeghel, Michel, Welling, Lindsey, Treacy, Eileen P., Wanders, Ronald J. A., Ferdinandusse, Sacha, Bosch, Annet M.
出版年 Orphanet J Rare Dis (2018)

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

著者: Stepien, Karolina M., Schmidt, Wolfgang M., Bittner, Reginald E., O'Toole, Orna, McNamara, Brian, Treacy, Eileen P.
出版年 JIMD Rep (2019)

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

著者: Dolan, Ciara, Shields, Denis C, Stanton, Alice, O'Brien, Eoin, Lambert, Deborah M, O'Brien, John K, Treacy, Eileen P
出版事項 2005

Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1

著者: Stepien, Karolina M., Pastores, Gregory M., Hendroff, Una, McCormick, Ciara, Fitzimons, Patricia, Khawaja, Naveed, Borovickova, Ingrid, Treacy, Eileen P.
出版年 JIMD Rep (2018)

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

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

The genetic and biochemical basis of trimethylaminuria in an Irish cohort

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

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

著者: 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.
出版年 JIMD Rep (2017)

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

著者: 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.
出版年 JIMD Rep (2016)

Fertility preservation in female classic galactosemia patients

著者: 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
出版事項 2013

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

著者: 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.
出版年 Orphanet J Rare Dis (2018)

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

著者: 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.
出版年 Ir J Med Sci (2020)

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

著者: 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
出版事項 2012

Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers

著者: 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
出版年 Brain Commun (2020)