Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.
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Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria)Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor geneImerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMNGenome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrationsJuvenile cobalamin deficiency in individuals of African ancestry is caused by a founder mutation in the intrinsic factor gene GIFFrom bowel to kidneys: the role of cubilin in physiology and diseaseInborn errors of cobalamin absorption and metabolism.The kidney in vitamin B12 and folate homeostasis: characterization of receptors for tubular uptake of vitamins and carrier proteins.Amnionless (AMN) mutations in Imerslund-Gräsbeck syndrome may be associated with disturbed vitamin B12 transport into the CNS.Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome.Juvenile selective vitamin B₁₂ malabsorption: 50 years after its description-10 years of genetic testingExome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7.Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicitiesNovel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report.Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo.Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.Acquired and inherited disorders of cobalamin and folate in children.Hereditary intrinsic factor deficiency in chaldeans.An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogsLmbrd1 expression is essential for the initiation of gastrulationCommon variants of FUT2 are associated with plasma vitamin B12 levels.Genetic defects in folate and cobalamin pathways affecting the brain.2-year-old girl with pancytopenia due to vitamin B12 (cobalamin) deficiency.Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells.
P2860
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P2860
Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.
description
2004 nî lūn-bûn
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2004 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2004 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2004年の論文
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2004年論文
@yue
2004年論文
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2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Genetically heterogeneous sele ...... andinavia and the Middle East.
@ast
Genetically heterogeneous sele ...... andinavia and the Middle East.
@en
Genetically heterogeneous sele ...... andinavia and the Middle East.
@nl
type
label
Genetically heterogeneous sele ...... andinavia and the Middle East.
@ast
Genetically heterogeneous sele ...... andinavia and the Middle East.
@en
Genetically heterogeneous sele ...... andinavia and the Middle East.
@nl
prefLabel
Genetically heterogeneous sele ...... andinavia and the Middle East.
@ast
Genetically heterogeneous sele ...... andinavia and the Middle East.
@en
Genetically heterogeneous sele ...... andinavia and the Middle East.
@nl
P2093
P2860
P921
P356
P1433
P1476
Genetically heterogeneous sele ...... andinavia and the Middle East.
@en
P2093
Ceren Acar
Cihan Oner
Essam A Ismail
Harald Broch
Mohamed A Abdelaal
Mualla Cetin
Ralf Krahe
Ralph Gräsbeck
Reyhan Oner
Ryan Bisson
P2860
P304
P356
10.1002/HUMU.20014
P577
2004-04-01T00:00:00Z