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Results: 1 to 20 of 239

1.

[Hereditary juvenile cobalamin deficiency due to mutations in GIF gene].

García Jiménez MC, Baldellou Vázquez A, Calvo Martín MT, Pérez-Lungmus G, López Pisón J.

An Pediatr (Barc). 2008 Jul;69(1):56-8. Spanish.

PMID:
18620679
[PubMed - indexed for MEDLINE]
Free Article
2.

Acquired and inherited disorders of cobalamin and folate in children.

Whitehead VM.

Br J Haematol. 2006 Jul;134(2):125-36. Review.

PMID:
16846473
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
16047053
[PubMed - indexed for MEDLINE]
4.

Update on cobalamin, folate, and homocysteine.

Carmel R, Green R, Rosenblatt DS, Watkins D.

Hematology Am Soc Hematol Educ Program. 2003:62-81. Review.

PMID:
14633777
[PubMed - indexed for MEDLINE]
Free Article
5.

Vitamin B12 in health and disease: part I--inherited disorders of function, absorption, and transport.

Kapadia CR.

Gastroenterologist. 1995 Dec;3(4):329-44. Review.

PMID:
8775094
[PubMed - indexed for MEDLINE]
6.

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 15;102(11):4130-3. Epub 2005 Feb 28.

PMID:
15738392
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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 28;7:56. doi: 10.1186/1750-1172-7-56.

PMID:
22929189
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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. Epub 2007 Aug 1.

PMID:
17668238
[PubMed - indexed for MEDLINE]
9.

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. doi: 10.1016/j.ymgme.2012.07.007. Epub 2012 Jul 20.

PMID:
22854512
[PubMed - indexed for MEDLINE]
10.

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. doi: 10.1016/j.ymgme.2013.05.006. Epub 2013 May 22.

PMID:
23746554
[PubMed - indexed for MEDLINE]
11.

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.

PMID:
1848001
[PubMed - indexed for MEDLINE]
12.

Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria).

Gräsbeck R.

Orphanet J Rare Dis. 2006 May 19;1:17. Review.

PMID:
16722557
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Inherited errors of cobalamin metabolism and their management.

Linnell JC, Bhatt HR.

Baillieres Clin Haematol. 1995 Sep;8(3):567-601. Review.

PMID:
8534962
[PubMed - indexed for MEDLINE]
14.

Subtle and atypical cobalamin deficiency states.

Carmel R.

Am J Hematol. 1990 Jun;34(2):108-14. Review.

PMID:
2187334
[PubMed - indexed for MEDLINE]
15.

Hereditary intrinsic factor deficiency in chaldeans.

Sturm AC, Baack EC, Armstrong MB, Schiff D, Zia A, Savasan S, de la Chapelle A, Tanner SM.

JIMD Rep. 2013;7:13-8. doi: 10.1007/8904_2012_133. Epub 2012 Mar 18.

PMID:
23430489
[PubMed]
Free PMC Article
16.

[Belated decompensation of an Imerslund-Grasbeck disease].

Eitenschenck L, Armari-Alla C, Plantaz D, Pagnier A, Ducros V.

Arch Pediatr. 2005 Dec;12(12):1729-31. Epub 2005 Nov 8. French.

PMID:
16289772
[PubMed - indexed for MEDLINE]
17.

[Selective vitamin B 12 malabsorption in a 19-year-old patient].

Walser A, Eigenmann H, Gut A.

Schweiz Med Wochenschr. 1989 Jul 29;119(30):1053-6. German.

PMID:
2552572
[PubMed - indexed for MEDLINE]
18.

[Imerslund-Najman-Grasbeck anemia. Apropos of a case].

Ben Meriem C, Pousse H, Bourgeay-Causse M, Amri F, Besbes A, Belkhir A, Sfar MT, Jrad T.

Pediatrie. 1993;48(10):693-5. French.

PMID:
8015868
[PubMed - indexed for MEDLINE]
19.

Linkage analysis of a large inbred family with congenital megaloblastic anemia.

Al-Alami JR, Tayeh MK, Al-Sheyyab MY, El-Shanti HI.

Saudi Med J. 2002 Oct;23(10):1251-6.

PMID:
12436132
[PubMed - indexed for MEDLINE]
20.

A case report of 46,XX,del(21)(q22) de novo deletion associated with Imerslund-Grasbeck syndrome.

Celep F, Karagüzel A, Aynaci FM, Erduran E.

Clin Genet. 1996 Oct;50(4):248-50.

PMID:
9001810
[PubMed - indexed for MEDLINE]

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