Associated Papers
Peeling of skin as presenting manifestation in congenital disorders of glycosylation.
Almutairi M et al.
The Journal of Dermatology, 2020
Dermatofibrosarcoma in Li-Fraumeni syndrome with early-onset multiple primary tumors.
Ku I et al.
The Journal of Dermatology, 2020
Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation.
Lieu MT et al.
Molecular Genetics and Metabolism, 2013
From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG).
Kapusta L et al.
Heart Failure Reviews, 2013
Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation.
Wolfe LA et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.
Lefeber DJ et al.
Plos Genetics, 2011
Select a paper to view details