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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 geneCubilin is an albumin binding protein important for renal tubular albumin reabsorptionImerslund-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 GIFGenetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial.Isolation and characterization of an abnormal human intrinsic factor.Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome.Juvenile selective vitamin B₁₂ malabsorption: 50 years after its description-10 years of genetic testingLuminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7.Specific malabsorption of vitamin B12 in Down's syndrome.Novel 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.A saturable high affinity binding site for transcobalamin II-vitamin B12 complexes in human placental membrane preparationsSelective vitamin B12 malabsorption in two siblings.Failure to thrive and life-threatening complications due to inherited selective cobalamin malabsorption effectively managed in a juvenile Australian shepherd dog.Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.Hereditary intrinsic factor deficiency in chaldeans.An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogsImerslund-Grasbeck syndrome in a Chinese family with distinct skin lesions refractory to vitamin B12.Megalin-mediated endocytosis of transcobalamin-vitamin-B12 complexes suggests a role of the receptor in vitamin-B12 homeostasis.Selective intestinal cobalamin malabsorption with proteinuria (Imerslund-Gräsbeck syndrome) in juvenile Beagles.Defective AMN causes hereditary megaloblastic anemia 1Absorption of cobalamins.Defective AMN does not transport GIF:CblDefective CUBN does not transport GIF:CblProspective long-term evaluation of parenteral hydroxocobalamin supplementation in juvenile beagles with selective intestinal cobalamin malabsorption (Imerslund-Gräsbeck syndrome).
P2860
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P2860
description
1960 nî lūn-bûn
@nan
1960年の論文
@ja
1960年学术文章
@wuu
1960年学术文章
@zh
1960年学术文章
@zh-cn
1960年学术文章
@zh-hans
1960年学术文章
@zh-my
1960年学术文章
@zh-sg
1960年學術文章
@yue
1960年學術文章
@zh-hant
name
Idiopathic chronic megaloblastic anemia in children.
@en
Idiopathic chronic megaloblastic anemia in children.
@nl
type
label
Idiopathic chronic megaloblastic anemia in children.
@en
Idiopathic chronic megaloblastic anemia in children.
@nl
prefLabel
Idiopathic chronic megaloblastic anemia in children.
@en
Idiopathic chronic megaloblastic anemia in children.
@nl
P1476
Idiopathic chronic megaloblastic anemia in children.
@en
P2093
IMERSLUND O
P478
49(Suppl 119)
P577
1960-01-01T00:00:00Z