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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書誌詳細

出版年:	J Clin Invest
主要な著者:	Kim, Soohyun, Westphal, Vibeke, Srikrishna, Geetha, Mehta, Darshini P., Peterson, Sandra, Filiano, James, Karnes, Pamela S., Patterson, Marc C., Freeze, Hudson H.
フォーマット:	Artigo
言語:	Inglês
出版事項:	American Society for Clinical Investigation 2000
主題:	Article
オンライン･アクセス:	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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