Ovarian function in girls and women with GALT-deficiency galactosemia

por Fridovich-Keil, Judith L., Gubbels, Cynthia S., Spencer, Jessica B., Sanders, Rebecca D., Land, Jolande A., Rubio-Gozalbo, Estela
Publicado 2010

Psychosocial developmental milestones in men with classic galactosemia

por Gubbels, Cynthia Sophia, Maurice-Stam, Heleen, Berry, Gerard Thomas, Bosch, Annet Maria, Waisbren, Susan, Rubio-Gozalbo, Maria Estela, Grootenhuis, Martha Alexandra
Publicado 2011

FSH isoform pattern in classic galactosemia

por Gubbels, Cynthia S., Thomas, Chris M. G., Wodzig, Will K. W. H., Olthaar, André J., Jaeken, Jaak, Sweep, Fred C. G. J., Rubio-Gozalbo, M. Estela
Publicado 2010

Primary ovarian insufficiency in classic galactosemia: role of FSH dysfunction and timing of the lesion

por Gubbels, Cynthia S., Land, Jolande A., Evers, Johannes L. H., Bierau, Jörgen, Menheere, Paul P. C. A., Robben, Simon G. F., Rubio-Gozalbo, M. Estela
Publicado 2012

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

Infant Mortality: the Contribution of Genetic Disorders

por Wojcik, Monica H., Schwartz, Talia S., Thiele, Katri E., Paterson, Heather, Stadelmaier, Rachel, Mullen, Thomas E., VanNoy, Grace E., Genetti, Casie A., Madden, Jill A., Gubbels, Cynthia S., Yu, Timothy W., Tan, Wen-Hann, Agrawal, Pankaj B.
Publicado 2019

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

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

por Yabumoto, Megan, Kianmahd, Jessica, Singh, Meghna, Palafox, Maria F., Wei, Angela, Elliott, Kathryn, Goodloe, Dana H., Dean, S. Joy, Gooch, Catherine, Murray, Brianna K., Swartz, Erin, Schrier Vergano, Samantha A., Towne, Meghan C., Nugent, Kimberly, Roeder, Elizabeth R., Kresge, Christina, Pletcher, Beth A., Grand, Katheryn, Graham, John M., Gates, Ryan, Gomez‐Ospina, Natalia, Ramanathan, Subhadra, Clark, Robin Dawn, Glaser, Kimberly, Benke, Paul J., Cohen, Julie S., Fatemi, Ali, Mu, Weiyi, Baranano, Kristin W., Madden, Jill A., Gubbels, Cynthia S., Yu, Timothy W., Agrawal, Pankaj B., Chambers, Mary‐Kathryn, Phornphutkul, Chanika, Pugh, John A., Tauber, Kate A., Azova, Svetlana, Smith, Jessica R., O’Donnell‐Luria, Anne, Medsker, Hannah, Srivastava, Siddharth, Krakow, Deborah, Schweitzer, Daniela N., Arboleda, Valerie A.
Publicado 2021