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)

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

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

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)

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

Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis

Por Maratha, Ashwini, Stockmann, Henning, Coss, Karen P, Estela Rubio-Gozalbo, M, Knerr, Ina, Fitzgibbon, Maria, McVeigh, Terri P, Foley, Patricia, Moss, Catherine, Colhoun, Hugh-Owen, van Erven, Britt, Stephens, Kelly, Doran, Peter, Rudd, Pauline, Treacy, Eileen
Publicado no Eur J Hum Genet (2016)

Recurrence of the R408W Mutation in the Phenylalanine Hydroxylase Locus in Europeans

Por Eisensmith, Randy C., Goltsov, Alexei A., O'Neill, Charles, Tyfield, Linda A., Schwartz, Eugene I., Kuzmin, Alexei I., Baranovskaya, Svetlana S., Tsukerman, Gennady L., Treacy, Eileen, Scriver, Charles R., Güttler, Flemming, Guldberg, Per, Eiken, Hans G., Apold, Jaran, Svensson, Elisabeth, Naughten, Eileen, Cahalane, Seamus F., Croke, David T., Cockburn, Forrester, Woo, Savio L. C.
Publicado em 1995

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

Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks

Por Hollak, Carla E. M., Biegstraaten, Marieke, Baumgartner, Matthias R., Belmatoug, Nadia, Bembi, Bruno, Bosch, Annet, Brouwers, Martijn, Dekker, Hanka, Dobbelaere, Dries, Engelen, Marc, Groenendijk, Marike C., Lachmann, Robin, Langendonk, Janneke G., Langeveld, Mirjam, Linthorst, Gabor, Morava, Eva, Poll-The, Bwee Tien, Rahman, Shamima, Rubio-Gozalbo, M. Estela, Spiekerkoetter, Ute, Treacy, Eileen, Wanders, Ronald, Zschocke, Johannes, Hagendijk, Rob
Publicado no Orphanet J Rare Dis (2016)

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 no J Inherit Metab Dis (2016)