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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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Kim, Soohyun, Westphal, Vibeke, Srikrishna, Geetha, Mehta, Darshini P., Peterson, Sandra, Filiano, James, Karnes, Pamela S., Patterson, Marc C., Freeze, Hudson H.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Society for Clinical Investigation 2000
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC377427/
https://ncbi.nlm.nih.gov/pubmed/10642597
Tagiau: Ychwanegu Tag
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