Ophthalmological and electrophysiological findings in monozygotic twin sisters with phosphomannomutase 2 deficiency (PMM2-CDG) over a period of 37 years

by Van Hees, Ines, Jaeken, Jaak, Meersseman, Wouter, Casteels, Ingele
Published 2019-11-01

A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report

by Kvittingen Eli-Anne, Holme Elisabeth, Zeevaert Renate, Cassiman David, Jaeken Jaak
Published 2009-12-01

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report

by Zagal Ahmad, Kaya Namik, Mohamed Sarar, Al-Owain Mohammed, Matthijs Gert, Jaeken Jaak
Published 2010-04-01