[(13)C]‐galactose breath test in a patient with galactokinase deficiency and spastic diparesis

por Ficicioglu, Can, Demirbas, Didem, Derks, Britt, Pai, G. Shashidhar, Timson, David J., Rubio‐Gozalbo, Maria Estela, Berry, Gerard T.
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

Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia

por Haskovic, Minela, Derks, Britt, van der Ploeg, Liesbeth, Trommelen, Jorn, Nyakayiru, Jean, van Loon, Luc J. C., Mackinnon, Sabrina, Yue, Wyatt W., Peake, Roy W. A., Zha, Li, Demirbas, Didem, Qi, Wanshu, Huang, Xiaoping, Berry, Gerard T., Achten, Jelle, Bierau, Jörgen, Rubio-Gozalbo, M. Estela, Coelho, Ana I.
Publicado 2018

Galactose epimerase deficiency: lessons from the GalNet registry

por Derks, Britt, Demirbas, Didem, Arantes, Rodrigo R., Banford, Samantha, Burlina, Alberto B., Cabrera, Analía, Chiesa, Ana, Couce, M. Luz, Dionisi-Vici, Carlo, Gautschi, Matthias, Grünewald, Stephanie, Morava, Eva, Möslinger, Dorothea, Scholl-Bürgi, Sabine, Skouma, Anastasia, Stepien, Karolina M., Timson, David J., Berry, Gerard T., Rubio-Gozalbo, M. Estela
Publicado 2022

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