Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin (Tf). Two patients with the...

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Pubblicato in:	J Clin Invest
Autori principali:	Kim, Soohyun, Westphal, Vibeke, Srikrishna, Geetha, Mehta, Darshini P., Peterson, Sandra, Filiano, James, Karnes, Pamela S., Patterson, Marc C., Freeze, Hudson H.
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	American Society for Clinical Investigation 2000
Soggetti:	Article
Accesso online:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC377427/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/10642597/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI7302
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