Insights into the Pathophysiology of Infertility in Females with Classical Galactosaemia

por Abidin, Zaza, Treacy, Eileen P.
Publicado 2019

Clinical utility gene card for: Trimethylaminuria – update 2014

por Shephard, Elizabeth A, Treacy, Eileen P, Phillips, Ian R
Publicado 2015

Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations

por Shakerdi, Loai A., Gillman, Barbara, Corcoran, Emma, McNulty, Jenny, Treacy, Eileen P.
Publicado 2023

Impact of trimethylaminuria on daily psychosocial functioning

por Roddy, Daniel, McCarthy, Philomena, Nerney, Darragh, Mulligan‐Rabbitt, Jennifer, Smith, Edwin, Treacy, Eileen P.
Publicado 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 2018

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 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 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 2005

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 2019

Determination of the lactose and galactose content of common foods: Relevance to galactosemia

por Shakerdi, Loai A., Wallace, Leonie, Smyth, Georgina, Madden, Nora, Clark, Anne, Hendroff, Una, McGovern, Marianne, Connellan, Sarah, Gillman, Barbara, Treacy, Eileen P.
Publicado 2022

Management of pregnancy in a patient with long‐chain 3‐hydroxyacyl CoA dehydrogenase deficiency

por Shakerdi, Loai A., McNulty, Jenny, Gillman, Barbara, McCarthy, Claire M., Ivory, Jessica, Sheerin, Alison, O'Byrne, James J., Donnelly, Jennifer C., Treacy, Eileen P.
Publicado 2022

Abnormal N‐glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake

por 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
Publicado 2021

The hypergonadotropic hypogonadism conundrum of classic galactosemia

por Derks, Britt, Rivera-Cruz, Greysha, Hagen-Lillevik, Synneva, Vos, E Naomi, Demirbas, Didem, Lai, Kent, Treacy, Eileen P, Levy, Harvey L, Wilkins-Haug, Louise E, Rubio-Gozalbo, M Estela, Berry, Gerard T
Publicado 2022

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 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 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 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 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 2020

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up

por Welling, Lindsey, Bernstein, Laurie E., Berry, Gerard T., Burlina, Alberto B., Eyskens, François, Gautschi, Matthias, Grünewald, Stephanie, Gubbels, Cynthia S., Knerr, Ina, Labrune, Philippe, van der Lee, Johanna H., MacDonald, Anita, Murphy, Elaine, Portnoi, Pat A., Õunap, Katrin, Potter, Nancy L., Rubio-Gozalbo, M. Estela, Spencer, Jessica B., Timmers, Inge, Treacy, Eileen P., Van Calcar, Sandra C., Waisbren, Susan E., Bosch, Annet M.
Publicado 2016

Galactokinase deficiency: lessons from the GalNet registry

por Rubio-Gozalbo, M. Estela, Derks, Britt, Das, Anibh Martin, Meyer, Uta, Möslinger, Dorothea, Couce, M. Luz, Empain, Aurélie, Ficicioglu, Can, Juliá Palacios, Natalia, De Los Santos De Pelegrin, Mariela M., Rivera, Isabel A., Scholl-Bürgi, Sabine, Bosch, Annet M., Cassiman, David, Demirbas, Didem, Gautschi, Matthias, Knerr, Ina, Labrune, Philippe, Skouma, Anastasia, Verloo, Patrick, Wortmann, Saskia B., Treacy, Eileen P., Timson, David J., Berry, Gerard T.
Publicado 2020