Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie

Congenital disorders of glycosylation (CDG), formerly known as carbohydrate-deficient glycoprotein syndromes, lead to diseases with variable clinical pictures. We report the delineation of a novel type of CDG identified in 2 children presenting with severe developmental delay, seizures, and dysmorph...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Gepubliceerd in:J Clin Invest
Hoofdauteurs: Imbach, Timo, Schenk, Barbara, Schollen, Els, Burda, Patricie, Stutz, Andreas, Grünewald, Stephanie, Bailie, Nicola M., King, Mary D., Jaeken, Jaak, Matthijs, Gert, Berger, Eric G., Aebi, Markus, Hennet, Thierry
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: American Society for Clinical Investigation 2000
Onderwerpen:
Article
Online toegang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC377434/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/10642602/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI8691
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items