274 related articles for article (PubMed ID: 22929189)
1. Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.
Tanner SM; Sturm AC; Baack EC; Liyanarachchi S; de la Chapelle A
Orphanet J Rare Dis; 2012 Aug; 7():56. PubMed ID: 22929189
[TBL] [Abstract][Full Text] [Related]
2. Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities.
Beech CM; Liyanarachchi S; Shah NP; Sturm AC; Sadiq MF; de la Chapelle A; Tanner SM
Orphanet J Rare Dis; 2011 Nov; 6():74. PubMed ID: 22078000
[TBL] [Abstract][Full Text] [Related]
3. An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogs.
Fyfe JC; Hemker SL; Venta PJ; Fitzgerald CA; Outerbridge CA; Myers SL; Giger U
Mol Genet Metab; 2013 Aug; 109(4):390-6. PubMed ID: 23746554
[TBL] [Abstract][Full Text] [Related]
4. Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene.
Tanner SM; Li Z; Perko JD; Oner C; Cetin M; Altay C; Yurtsever Z; David KL; Faivre L; Ismail EA; Gräsbeck R; de la Chapelle A
Proc Natl Acad Sci U S A; 2005 Mar; 102(11):4130-3. PubMed ID: 15738392
[TBL] [Abstract][Full Text] [Related]
5. Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome.
Storm T; Zeitz C; Cases O; Amsellem S; Verroust PJ; Madsen M; Benoist JF; Passemard S; Lebon S; Jønsson IM; Emma F; Koldsø H; Hertz JM; Nielsen R; Christensen EI; Kozyraki R
BMC Med Genet; 2013 Oct; 14():111. PubMed ID: 24156255
[TBL] [Abstract][Full Text] [Related]
6. Imerslund-Gräsbeck syndrome in a 15-year-old German girl caused by compound heterozygous mutations in CUBN.
Hauck FH; Tanner SM; Henker J; Laass MW
Eur J Pediatr; 2008 Jun; 167(6):671-5. PubMed ID: 17668238
[TBL] [Abstract][Full Text] [Related]
7. Selective intestinal cobalamin malabsorption with proteinuria (Imerslund-Gräsbeck syndrome) in juvenile Beagles.
Fyfe JC; Hemker SL; Venta PJ; Stebbing B; Giger U
J Vet Intern Med; 2014; 28(2):356-62. PubMed ID: 24433284
[TBL] [Abstract][Full Text] [Related]
8. Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report.
Montgomery E; Sayer JA; Baines LA; Hynes AM; Vega-Warner V; Johnson S; Goodship JA; Otto EA
BMC Med Genet; 2015 Jun; 16():35. PubMed ID: 26040326
[TBL] [Abstract][Full Text] [Related]
9. Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intronic Variant in the
Pacitto A; Prontera P; Stangoni G; Stefanelli M; Ceppi S; Cerri C; Gurdo G; Mencarelli A; Esposito S
Int J Mol Sci; 2019 Jan; 20(3):. PubMed ID: 30691194
[TBL] [Abstract][Full Text] [Related]
10. Clinical and molecular characteristics of imerslund-gräsbeck syndrome: First report of a novel Frameshift variant in Exon 11 of AMN gene.
Elshinawy M; Gao HH; Al-Nabhani DM; Al-Thihli KA
Int J Lab Hematol; 2021 Oct; 43(5):1009-1015. PubMed ID: 33491342
[TBL] [Abstract][Full Text] [Related]
11. Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria).
Gräsbeck R
Orphanet J Rare Dis; 2006 May; 1():17. PubMed ID: 16722557
[TBL] [Abstract][Full Text] [Related]
12. A frameshift mutation in the cubilin gene (CUBN) in Beagles with Imerslund-Gräsbeck syndrome (selective cobalamin malabsorption).
Drögemüller M; Jagannathan V; Howard J; Bruggmann R; Drögemüller C; Ruetten M; Leeb T; Kook PH
Anim Genet; 2014 Feb; 45(1):148-50. PubMed ID: 24164695
[TBL] [Abstract][Full Text] [Related]
13. A frameshift mutation in the cubilin gene (CUBN) in Border Collies with Imerslund-Gräsbeck syndrome (selective cobalamin malabsorption).
Owczarek-Lipska M; Jagannathan V; Drögemüller C; Lutz S; Glanemann B; Leeb T; Kook PH
PLoS One; 2013; 8(4):e61144. PubMed ID: 23613799
[TBL] [Abstract][Full Text] [Related]
14. Homozygous AMN mutation in hereditary selective intestinal malabsorption of vitamin B12 in Jordan.
Al-Alami JR; Tanner SM; Tayeh MK; de la Chapelle A; El-Shanti H
Saudi Med J; 2005 Jul; 26(7):1061-4. PubMed ID: 16047053
[TBL] [Abstract][Full Text] [Related]
15. Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant.
Fyfe JC; Hemker SL; Frampton A; Raj K; Nagy PL; Gibbon KJ; Giger U
BMC Vet Res; 2018 Dec; 14(1):418. PubMed ID: 30591068
[TBL] [Abstract][Full Text] [Related]
16. Inherited selective intestinal cobalamin malabsorption and cobalamin deficiency in dogs.
Fyfe JC; Giger U; Hall CA; Jezyk PF; Klumpp SA; Levine JS; Patterson DF
Pediatr Res; 1991 Jan; 29(1):24-31. PubMed ID: 1848001
[TBL] [Abstract][Full Text] [Related]
17. Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN.
De Filippo G; Rendina D; Rocco V; Esposito T; Gianfrancesco F; Strazzullo P
Ital J Pediatr; 2013 Sep; 39():58. PubMed ID: 24044590
[TBL] [Abstract][Full Text] [Related]
18. Imerslund-Gräsbeck Syndrome presenting with microangiopathic hemolytic anemia in a child.
Gurlek Gokcebay D; Akpinar Tekgunduz S; Cavdarli B
Eur J Med Genet; 2020 Jun; 63(6):103880. PubMed ID: 32045704
[TBL] [Abstract][Full Text] [Related]
19. How can cobalamin injections be spaced in long-term therapy for inborn errors of vitamin B(12) absorption?
Boina Abdallah A; Ogier de Baulny H; Kozyraki R; Passemard S; Fenneteau O; Lebon S; Rigal O; Mesples B; Yacouben K; Giraudier S; Benoist JF; Schiff M
Mol Genet Metab; 2012 Sep; 107(1-2):66-71. PubMed ID: 22854512
[TBL] [Abstract][Full Text] [Related]
20. A 17-Month-old Boy With Pancytopenia Caused by a Rare Genetic Defect of Vitamin B12 Malabsorption.
Baker KM; Parikh NS; Salsbery KT; Shaw GR; Steiner RD; Oelstrom MJ; Manalang MA
J Pediatr Hematol Oncol; 2022 Mar; 44(2):e444-e446. PubMed ID: 34054045
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
