Associated Papers
Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis.
Komlosi K et al.
Frontiers in Genetics, 2021
Fatal hyperkeratosis syndrome in four siblings due to dolichol kinase deficiency.
Hall BD et al.
American Journal of Medical Genetics. Part A, 2020
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
Medrano C et al.
Clinical Genetics, 2019
Heart transplantation in a child with congenital disorder of glycosylation.
Klcovansky J et al.
The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation, 2016
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