Inherited errors of metabolism
ISSN:
0340-6717 (Print)
1432-1203 (Online)
In this topical collection (8 articles)
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Original Investigation
Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria
Patrick Forny, Tanja Plessl, Caroline Frei, Celine Bürer, D. Sean Froese… Pages 1253-1267 -
Original Investigation
Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation
Eline Blommaert, Natalia A. Cherepanova, Frederik Staels… Pages 1279-1286 -
Original Article
SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation
Zoé Durin, Johanne Dubail, Aurore Layotte, Dominique Legrand… Pages 1287-1298
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