Increasing the spectrum of white matter diseases with tigroid pattern on MRI: glutaric aciduria type 1 – case report

door Bekiesinska-Figatowska, Monika, Duczkowski, Marek, Duczkowska, Agnieszka, Taybert, Joanna, Krzywdzinska, Amanda, Sykut-Cegielska, Jolanta
Gepubliceerd in BMC Pediatr (2021)

Clinical and molecular characteristics of two transaldolase-deficient patients

door Tylki-Szymanska, Anna, Wamelink, Mirjam M. C., Stradomska, Teresa J., Salomons, Gajja S., Taybert, Joanna, Dąbrowska-Leonik, Nel, Rurarz, Małgorzata
Gepubliceerd in Eur J Pediatr (2014)

Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progres...

door Pronicka, Ewa, Węglewska-Jurkiewicz, Anna, Taybert, Joanna, Pronicki, Maciej, Szymańska-Dębińska, Tamara, Karkucińska-Więckowska, Agnieszka, Jakóbkiewicz-Banecka, Joanna, Kowalski, Paweł, Piekutowska-Abramczuk, Dorota, Pajdowska, Magdalena, Socha, Piotr, Sykut-Cegielska, Jolanta, Węgrzyn, Grzegorz
Gepubliceerd in 2010

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome

door Sentner, Christiaan P., Hoogeveen, Irene J., Weinstein, David A., Santer, René, Murphy, Elaine, McKiernan, Patrick J., Steuerwald, Ulrike, Beauchamp, Nicholas J., Taybert, Joanna, Laforêt, Pascal, Petit, François M., Hubert, Aurélie, Labrune, Philippe, Smit, G. Peter A., Derks, Terry G. J.
Gepubliceerd in J Inherit Metab Dis (2016)