Hemorrhagic colitis induced by trientine in a 51-year-old patient with Wilson’s disease waiting for liver transplantation: A case report

por Schult, Andreas, Andersson, Matts, Asin-Cayuela, Jorge, Olsson, Karl Sigvard
Publicado 2022

Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report

por Blomqvist, Maria, Ahlberg, Karin, Lindgren, Julia, Ferdinandusse, Sacha, Asin-Cayuela, Jorge
Publicado 2017

β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA

por Blomqvist, Maria, Smeland, Marie Falkenberg, Lindgren, Julia, Sikora, Per, Riise Stensland, Hilde Monica Frostad, Asin-Cayuela, Jorge
Publicado 2019

Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome

por Sofou, Kalliopi, Kollberg, Gittan, Holmström, Maria, Dávila, Marcela, Darin, Niklas, Gustafsson, Claes M, Holme, Elisabeth, Oldfors, Anders, Tulinius, Már, Asin-Cayuela, Jorge
Publicado 2015

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation

por Euro, Liliya, Konovalova, Svetlana, Asin-Cayuela, Jorge, Tulinius, Már, Griffin, Helen, Horvath, Rita, Taylor, Robert W., Chinnery, Patrick F., Schara, Ulrike, Thorburn, David R., Suomalainen, Anu, Chihade, Joseph, Tyynismaa, Henna
Publicado 2015

Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like disease

por Sofou, Kalliopi, Meier, Kolja, Sanderson, Leslie E, Kaminski, Debora, Montoliu‐Gaya, Laia, Samuelsson, Emma, Blomqvist, Maria, Agholme, Lotta, Gärtner, Jutta, Mühlhausen, Chris, Darin, Niklas, Barakat, Tahsin Stefan, Schlotawa, Lars, van Ham, Tjakko, Asin Cayuela, Jorge, Sterky, Fredrik H
Publicado 2021