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

by Maria Blomqvist, Karin Ahlberg, Julia Lindgren, Sacha Ferdinandusse, Jorge Asin-Cayuela
Published 2017-08-01

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

by Kalliopi Sofou, Kolja Meier, Leslie E Sanderson, Debora Kaminski, Laia Montoliu‐Gaya, Emma Samuelsson, Maria Blomqvist, Lotta Agholme, Jutta Gärtner, Chris Mühlhausen, Niklas Darin, Tahsin Stefan Barakat, Lars Schlotawa, Tjakko vanHam, Jorge Asin Cayuela, Fredrik H Sterky
Published 2021-05-01