Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 122

1.

A patient with an inborn error of vitamin B12 metabolism (cblF) detected by newborn screening.

Armour CM, Brebner A, Watkins D, Geraghty MT, Chan A, Rosenblatt DS.

Pediatrics. 2013 Jul;132(1):e257-61. doi: 10.1542/peds.2013-0105. Epub 2013 Jun 17.

PMID:
23776111
[PubMed - indexed for MEDLINE]
Free Article
2.

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.

Rutsch F, Gailus S, Miousse IR, Suormala T, Sagné C, Toliat MR, Nürnberg G, Wittkampf T, Buers I, Sharifi A, Stucki M, Becker C, Baumgartner M, Robenek H, Marquardt T, Höhne W, Gasnier B, Rosenblatt DS, Fowler B, Nürnberg P.

Nat Genet. 2009 Feb;41(2):234-9. doi: 10.1038/ng.294. Epub 2009 Jan 11.

PMID:
19136951
[PubMed - indexed for MEDLINE]
3.

A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient.

Gailus S, Suormala T, Malerczyk-Aktas AG, Toliat MR, Wittkampf T, Stucki M, Nürnberg P, Fowler B, Hennermann JB, Rutsch F.

J Inherit Metab Dis. 2010 Feb;33(1):17-24. doi: 10.1007/s10545-009-9032-7. Epub 2010 Feb 3.

PMID:
20127417
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing.

Kim JC, Lee NC, Hwu PW, Chien YH, Fahiminiya S, Majewski J, Watkins D, Rosenblatt DS.

Mol Genet Metab. 2012 Dec;107(4):664-8. doi: 10.1016/j.ymgme.2012.10.005. Epub 2012 Oct 16.

PMID:
23141461
[PubMed - indexed for MEDLINE]
6.

Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.

Carrillo-Carrasco N, Chandler RJ, Venditti CP.

J Inherit Metab Dis. 2012 Jan;35(1):91-102. doi: 10.1007/s10545-011-9364-y. Epub 2011 Jul 12. Review.

PMID:
21748409
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Insights into lysosomal cobalamin trafficking: lessons learned from cblF disease.

Gailus S, Höhne W, Gasnier B, Nürnberg P, Fowler B, Rutsch F.

J Mol Med (Berl). 2010 May;88(5):459-66. doi: 10.1007/s00109-010-0601-x. Epub 2010 Feb 20. Review.

PMID:
20174775
[PubMed - indexed for MEDLINE]
8.

Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up.

Haarmann A, Mayr M, Kölker S, Baumgartner ER, Schnierda J, Hopfer H, Devuyst O, Baumgartner MR.

Mol Genet Metab. 2013 Dec;110(4):472-6. doi: 10.1016/j.ymgme.2013.08.021. Epub 2013 Sep 17.

PMID:
24095221
[PubMed - indexed for MEDLINE]
9.

[Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment].

Huang Z, Han LS, Ye J, Qiu WJ, Zhang HW, Gao XL, Wang Y, Ji WJ, Li XY, Gu XF.

Zhonghua Er Ke Za Zhi. 2013 Mar;51(3):194-8. Chinese.

PMID:
23751581
[PubMed - indexed for MEDLINE]
10.

Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism.

Miousse IR, Watkins D, Rosenblatt DS.

Mol Genet Metab. 2011 Apr;102(4):505-7. doi: 10.1016/j.ymgme.2011.01.002. Epub 2011 Jan 14.

PMID:
21303734
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

LMBRD1: the gene for the cblF defect of vitamin B₁₂ metabolism.

Rutsch F, Gailus S, Suormala T, Fowler B.

J Inherit Metab Dis. 2011 Feb;34(1):121-6. doi: 10.1007/s10545-010-9083-9. Epub 2010 May 6. Review.

PMID:
20446115
[PubMed - indexed for MEDLINE]
13.
14.

Genetic defects of folate and cobalamin metabolism.

Fowler B.

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

PMID:
9587028
[PubMed - indexed for MEDLINE]
15.

Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.

Weisfeld-Adams JD, Morrissey MA, Kirmse BM, Salveson BR, Wasserstein MP, McGuire PJ, Sunny S, Cohen-Pfeffer JL, Yu C, Caggana M, Diaz GA.

Mol Genet Metab. 2010 Feb;99(2):116-23. doi: 10.1016/j.ymgme.2009.09.008. Epub 2009 Sep 27.

PMID:
19836982
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency.

Campbell CD, Ganesh J, Ficicioglu C.

Haematologica. 2005 Dec;90(12 Suppl):ECR45.

PMID:
16464760
[PubMed - indexed for MEDLINE]
Free Article
17.

Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport.

Morel CF, Watkins D, Scott P, Rinaldo P, Rosenblatt DS.

Mol Genet Metab. 2005 Sep-Oct;86(1-2):160-71.

PMID:
16150626
[PubMed - indexed for MEDLINE]
18.

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.

Coelho D, Kim JC, Miousse IR, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Nürnberg P, Thiele H, Robenek H, Höhne W, Longo N, Pasquali M, Mengel E, Watkins D, Shoubridge EA, Majewski J, Rosenblatt DS, Fowler B, Rutsch F, Baumgartner MR.

Nat Genet. 2012 Oct;44(10):1152-5. doi: 10.1038/ng.2386. Epub 2012 Aug 26.

PMID:
22922874
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

[Diagnosis and treatment of isolated methylmalonic acidemia].

Han LS, Wu SN, Ye J, Qiu WJ, Zhang HW, Gao XL, Wang Y, Li XY, Xu H, Gu XF.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Oct;30(5):589-93. doi: 10.3760/cma.j.issn.1003-9406.2013.05.018. Chinese.

PMID:
24078577
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk