Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria)
about
Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMNJuvenile 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 diseaseA frameshift mutation in the cubilin gene (CUBN) in Border Collies with Imerslund-Gräsbeck syndrome (selective cobalamin malabsorption).Inborn errors of cobalamin absorption and metabolism.Hepatic fungal infection in a young beagle with unrecognised hereditary cobalamin deficiency (Imerslund-Gräsbeck syndrome).ZONAB promotes proliferation and represses differentiation of proximal tubule epithelial cells.Unraveling the mysteries of serum albumin-more than just a serum protein.Vitamin B12 deficiency in a 15-year old boy due to mutations in the intrinsic factor gene, GIF.A rare case of vitamin B12 deficiency with ascites.CUBN as a novel locus for end-stage renal disease: insights from renal transplantation.Linkage disequilibrium analysis reveals an albuminuria risk haplotype containing three missense mutations in the cubilin gene with striking differences among European and African ancestry populations.Amnionless (AMN) mutations in Imerslund-Gräsbeck syndrome may be associated with disturbed vitamin B12 transport into the CNS.Cubilin expression is monoallelic and epigenetically augmented via PPARs.Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome.Juvenile selective vitamin B₁₂ malabsorption: 50 years after its description-10 years of genetic testingThe association between vitamin B12, albuminuria and reduced kidney function: an observational cohort studyBiochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario.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 ethnicitiesUnusual cause of childhood anemia: Imerslund Grasbeck syndrome.Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.Hereditary intrinsic factor deficiency in chaldeans.Degenerative liver disease in young Beagles with hereditary cobalamin malabsorption because of a mutation in the cubilin geneLmbrd1 expression is essential for the initiation of gastrulationThe association of a single-nucleotide polymorphism in CUBN and the risk of albuminuria and cardiovascular disease.A novel mtDNA large-scale mutation clinically exclusively presenting with refractory anemia: is there a chance to predict disease progression?The pathophysiology of elevated vitamin B12 in clinical practice.2-year-old girl with pancytopenia due to vitamin B12 (cobalamin) deficiency.Interactions of vitamin D and the proximal tubule.Cadmium or cadmium compounds and chronic kidney disease in workers and the general population: a systematic review.Cubilin, a high affinity receptor for fibroblast growth factor 8, is required for cell survival in the developing vertebrate head.Imerslund-Grasbeck syndrome in a 5-year-old Iranian boy.Limited capacity of proximal tubular proteolysis in mice with proteinuria.The critical role of vitamin B12.Systemic Scedosporium prolificans infection in an 11-month-old Border collie with cobalamin deficiency secondary to selective cobalamin malabsorption (canine Imerslund-Gräsbeck syndrome).Mouse model of proximal tubule endocytic dysfunction.Monogenic Causes of Proteinuria in Children.A frameshift mutation in the cubilin gene (CUBN) in Beagles with Imerslund-Gräsbeck syndrome (selective cobalamin malabsorption).Prospective long-term evaluation of parenteral hydroxocobalamin supplementation in juvenile beagles with selective intestinal cobalamin malabsorption (Imerslund-Gräsbeck syndrome).
P2860
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P2860
Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria)
description
2006 nî lūn-bûn
@nan
2006 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria)
@ast
Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria)
@en
Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria)
@en-gb
Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria)
@nl
type
label
Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria)
@ast
Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria)
@en
Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria)
@en-gb
Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria)
@nl
prefLabel
Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria)
@ast
Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria)
@en
Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria)
@en-gb
Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria)
@nl
P2860
P921
P3181
P356
P1476
Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria)
@en
P2860
P2888
P3181
P356
10.1186/1750-1172-1-17
P407
P5008
P577
2006-05-19T00:00:00Z
P5875
P6179
1032271409