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Items: 1 to 20 of 149

1.

Genetic defects of folate and cobalamin metabolism.

Fowler B.

Eur J Pediatr. 1998 Apr;157 Suppl 2:S60-6. Review.

PMID:
9587028
2.

Leukoencephalopathies associated with disorders of cobalamin and folate metabolism.

Wilcken B.

Semin Neurol. 2012 Feb;32(1):68-74. doi: 10.1055/s-0032-1306389. Epub 2012 Mar 15. Review.

PMID:
22422209
3.
5.

Inborn errors of cobalamin absorption and metabolism.

Watkins D, Rosenblatt DS.

Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):33-44. doi: 10.1002/ajmg.c.30288. Epub 2011 Feb 10.

PMID:
21312325
6.

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
7.

Comparison of folic acid coenzyme distribution patterns in patients with methylenetetrahydrofolate reductase and methionine synthetase deficiencies.

Baumgartner ER, Stokstad EL, Wick SH, Watson JE, Kusano G.

Pediatr Res. 1985 Dec;19(12):1288-92.

PMID:
4080447
8.

Remethylation defects: guidelines for clinical diagnosis and treatment.

Ogier de Baulny H, GĂ©rard M, Saudubray JM, Zittoun J.

Eur J Pediatr. 1998 Apr;157 Suppl 2:S77-83. Review.

PMID:
9587031
9.

Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. II. Biochemical investigations.

Baumgartner ER, Wick H, Linnell JC, Gaull GE, Bachmann C, Steinmann B.

Helv Paediatr Acta. 1979;34(5):483-96.

PMID:
43301
10.

Acquired and inherited disorders of cobalamin and folate in children.

Whitehead VM.

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

PMID:
16846473
11.

[Inherited metabolic disorders of the transsulfuration pathway].

Haraguchi H.

Nihon Rinsho. 1992 Jul;50(7):1548-54. Japanese.

PMID:
1404882
12.

Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism.

Schuh S, Rosenblatt DS, Cooper BA, Schroeder ML, Bishop AJ, Seargeant LE, Haworth JC.

N Engl J Med. 1984 Mar 15;310(11):686-90.

PMID:
6700644
13.

The folate cycle and disease in humans.

Fowler B.

Kidney Int Suppl. 2001 Feb;78:S221-9. Review.

PMID:
11169015
14.

Mitochondrial vitamin B12-binding proteins in patients with inborn errors of cobalamin metabolism.

Moras E, Hosack A, Watkins D, Rosenblatt DS.

Mol Genet Metab. 2007 Feb;90(2):140-7. Epub 2006 Sep 29.

PMID:
17011224
15.

Methionine auxotrophy in inborn errors of cobalamin metabolism.

Garovic-Kocic V, Rosenblatt DS.

Clin Invest Med. 1992 Aug;15(4):395-400.

PMID:
1516297
16.

Advances in the understanding of cobalamin assimilation and metabolism.

Quadros EV.

Br J Haematol. 2010 Jan;148(2):195-204. doi: 10.1111/j.1365-2141.2009.07937.x. Epub 2009 Oct 12. Review.

17.

Cobalamin metabolism in cultured human chorionic villus cells.

Begley JA, Colligan PD, Chu RC, Hall CA.

J Cell Physiol. 1993 Jul;156(1):43-7.

PMID:
8100234
18.

Transcobalamin in cultured fibroblasts from patients with inborn errors of vitamin B12 metabolism.

Yamani L, Gibbs BF, Gilfix BM, Watkins D, Hosack A, Rosenblatt DS.

Mol Genet Metab. 2008 Sep-Oct;95(1-2):104-6. doi: 10.1016/j.ymgme.2008.05.007. Epub 2008 Jul 7.

PMID:
18606554
19.

Metabolic abnormalities in cobalamin (vitamin B12) and folate deficiency.

Allen RH, Stabler SP, Savage DG, Lindenbaum J.

FASEB J. 1993 Nov;7(14):1344-53. Review.

PMID:
7901104
20.

Polymorphisms in genes related to folate and cobalamin metabolism and the associations with complex birth defects.

Brouns R, Ursem N, Lindemans J, Hop W, Pluijm S, Steegers E, Steegers-Theunissen R.

Prenat Diagn. 2008 Jun;28(6):485-93. doi: 10.1002/pd.2006.

PMID:
18435414

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