Associated Papers
Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases.
Kingma SDK et al.
Orphanet Journal of Rare Diseases, 2023
37710296 (PubMed )
Supplement: 13023_2023_2889_MOESM2_ESM.xlsx › Tabel_artikel
Structural assembly of the megadalton-sized receptor for intestinal vitamin B12 uptake and kidney protein reabsorption.
Larsen C et al.
Nature Communications, 2018
30523278 (PubMed )
Supplement: 41467_2018_7468_MOESM2_ESM.pdf
Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells.
Udagawa T et al.
Scientific Reports, 2018
Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.
Tanner SM et al.
Orphanet Journal of Rare Diseases, 2012
Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities.
Beech CM et al.
Orphanet Journal of Rare Diseases, 2011
Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7.
Namour F et al.
Haematologica, 2011
Amnionless (AMN) mutations in Imerslund-Gräsbeck syndrome may be associated with disturbed vitamin B12 transport into the CNS.
Luder AS et al.
Journal of Inherited Metabolic Disease, 2008
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