RBCK1 -related disease: A rare multisystem disorder with polyglucosan storage, autoinflammation, recurrent infections, skeletal and cardiac myopathy - four additional patients and a review of the current literature
Phadke, Rahul, Hedberg-Oldfors, Carola, Scalco, Renata S., Lowe, David M., Ashworth, Michael, Novelli, Marco, Vara, Roshni, Merwick, Aine, Amer, Halima, Sofat, Reecha, Sugarman, Max, Jovanovic, Ana, RLangue:
english
Journal:
Journal of Inherited Metabolic Disease
DOI:
10.1002/jimd.12234
Date:
March, 2020
Fichier:
PDF, 2.13 MB
english, 2020