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Results: 1 to 20 of 89

1.

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]
2.

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]
3.

Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.

Stucki M, Coelho D, Suormala T, Burda P, Fowler B, Baumgartner MR.

Hum Mol Genet. 2012 Mar 15;21(6):1410-8. doi: 10.1093/hmg/ddr579. Epub 2011 Dec 8.

PMID:
22156578
[PubMed - indexed for MEDLINE]
Free Article
4.

Eighteen-year follow-up of a patient with cobalamin F disease (cblF): report and review.

Alfadhel M, Lillquist YP, Davis C, Junker AK, Stockler-Ipsiroglu S.

Am J Med Genet A. 2011 Oct;155A(10):2571-7. doi: 10.1002/ajmg.a.34220. Epub 2011 Sep 9. Review.

PMID:
21910240
[PubMed - indexed for MEDLINE]
5.

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.

Sloan JL, Johnston JJ, Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, Chandrasekaran SD, Sysol JR, O'Brien K, Hauser NS, Sapp JC, Dorward HM, Huizing M; NIH Intramural Sequencing Center Group, Barshop BA, Berry SA, James PM, Champaigne NL, de Lonlay P, Valayannopoulos V, Geschwind MD, Gavrilov DK, Nyhan WL, Biesecker LG, Venditti CP.

Nat Genet. 2011 Aug 14;43(9):883-6. doi: 10.1038/ng.908.

PMID:
21841779
[PubMed - indexed for MEDLINE]
Free PMC Article
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]
7.

Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.

Carrillo-Carrasco N, Venditti CP.

J Inherit Metab Dis. 2012 Jan;35(1):103-14. doi: 10.1007/s10545-011-9365-x. Epub 2011 Jul 12. Review.

PMID:
21748408
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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]
9.

Interaction between MMACHC and MMADHC, two human proteins participating in intracellular vitamin B₁₂ metabolism.

Plesa M, Kim J, Paquette SG, Gagnon H, Ng-Thow-Hing C, Gibbs BF, Hancock MA, Rosenblatt DS, Coulton JW.

Mol Genet Metab. 2011 Feb;102(2):139-48. doi: 10.1016/j.ymgme.2010.10.011. Epub 2010 Oct 21.

PMID:
21071249
[PubMed - indexed for MEDLINE]
10.

Treatment of cobalamin C (cblC) deficiency during pregnancy.

Brunel-Guitton C, Costa T, Mitchell GA, Lambert M.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S409-12. doi: 10.1007/s10545-010-9202-7. Epub 2010 Sep 10.

PMID:
20830523
[PubMed - indexed for MEDLINE]
11.

Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.

Liu MY, Yang YL, Chang YC, Chiang SH, Lin SP, Han LS, Qi Y, Hsiao KJ, Liu TT.

J Hum Genet. 2010 Sep;55(9):621-6. doi: 10.1038/jhg.2010.81. Epub 2010 Jul 15.

PMID:
20631720
[PubMed - indexed for MEDLINE]
12.

Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy.

Frattini D, Fusco C, Ucchino V, Tavazzi B, Della Giustina E.

Pediatr Neurol. 2010 Aug;43(2):135-8. doi: 10.1016/j.pediatrneurol.2010.04.007.

PMID:
20610126
[PubMed - indexed for MEDLINE]
13.

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]
14.

The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria.

Homolova K, Zavadakova P, Doktor TK, Schroeder LD, Kozich V, Andresen BS.

Hum Mutat. 2010 Apr;31(4):437-44. doi: 10.1002/humu.21206.

PMID:
20120036
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

Resolution of cor pulmonale after medical management in a patient with cblC-type methylmalonic aciduria and homocystinuria: a case report.

Profitlich L, Kirmse B, Wasserstein MP, Diaz G, Srivastava S.

Cases J. 2009 Jul 30;2:8603. doi: 10.4076/1757-1626-2-8603.

PMID:
19830091
[PubMed]
Free PMC Article
17.

Hydroxocobalamin dose escalation improves metabolic control in cblC.

Carrillo-Carrasco N, Sloan J, Valle D, Hamosh A, Venditti CP.

J Inherit Metab Dis. 2009 Dec;32(6):728-31. doi: 10.1007/s10545-009-1257-y. Epub 2009 Oct 10.

PMID:
19821145
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria.

Profitlich LE, Kirmse B, Wasserstein MP, Diaz GA, Srivastava S.

Mol Genet Metab. 2009 Dec;98(4):344-8. doi: 10.1016/j.ymgme.2009.07.017. Epub 2009 Aug 12.

PMID:
19767224
[PubMed - indexed for MEDLINE]
19.

[Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia].

Wang F, Han LS, Hu YH, Yang YL, Ye J, Qiu WJ, Zhang YF, Gao XL, Wang Y, Gu XF.

Zhonghua Er Ke Za Zhi. 2009 Mar;47(3):189-93. Chinese.

PMID:
19573432
[PubMed - indexed for MEDLINE]
20.

Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product.

Hannibal L, Kim J, Brasch NE, Wang S, Rosenblatt DS, Banerjee R, Jacobsen DW.

Mol Genet Metab. 2009 Aug;97(4):260-6. doi: 10.1016/j.ymgme.2009.04.005. Epub 2009 Apr 16.

PMID:
19447654
[PubMed - indexed for MEDLINE]
Free PMC Article

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