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Items: 1 to 20 of 100

1.

Clinical presentation and outcome in a series of 88 patients with the cblC defect.

Fischer S, Huemer M, Baumgartner M, Deodato F, Ballhausen D, Boneh A, Burlina AB, Cerone R, Garcia P, Gökçay G, Grünewald S, Häberle J, Jaeken J, Ketteridge D, Lindner M, Mandel H, Martinelli D, Martins EG, Schwab KO, Gruenert SC, Schwahn BC, Sztriha L, Tomaske M, Trefz F, Vilarinho L, Rosenblatt DS, Fowler B, Dionisi-Vici C.

J Inherit Metab Dis. 2014 Sep;37(5):831-40. doi: 10.1007/s10545-014-9687-6. Epub 2014 Mar 6.

PMID:
24599607
2.

Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.

Morel CF, Lerner-Ellis JP, Rosenblatt DS.

Mol Genet Metab. 2006 Aug;88(4):315-21. Epub 2006 May 22.

PMID:
16714133
3.

Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.

Huemer M, Scholl-Bürgi S, Hadaya K, Kern I, Beer R, Seppi K, Fowler B, Baumgartner MR, Karall D.

Orphanet J Rare Dis. 2014 Nov 15;9:161. doi: 10.1186/s13023-014-0161-1. Review.

4.

Cobalamin C defect presenting with isolated pulmonary hypertension.

Iodice FG, Di Chiara L, Boenzi S, Aiello C, Monti L, Cogo P, Dionisi-Vici C.

Pediatrics. 2013 Jul;132(1):e248-51. doi: 10.1542/peds.2012-1945. Epub 2013 Jun 10.

5.

Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).

Heil SG, Hogeveen M, Kluijtmans LA, van Dijken PJ, van de Berg GB, Blom HJ, Morava E.

J Inherit Metab Dis. 2007 Oct;30(5):811. Epub 2007 Sep 4.

PMID:
17768669
6.

Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.

Wang F, Han L, Yang Y, Gu X, Ye J, Qiu W, Zhang H, Zhang Y, Gao X, Wang Y.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S435-42. doi: 10.1007/s10545-010-9217-0. Epub 2010 Oct 6.

PMID:
20924684
7.

Clinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong province, China.

Han B, Cao Z, Tian L, Zou H, Yang L, Zhu W, Liu Y.

Brain Dev. 2016 May;38(5):491-7. doi: 10.1016/j.braindev.2015.10.016. Epub 2015 Nov 10.

PMID:
26563984
8.

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.

9.

Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder.

Sharma AP, Greenberg CR, Prasad AN, Prasad C.

Pediatr Nephrol. 2007 Dec;22(12):2097-103. Epub 2007 Sep 14.

PMID:
17874135
10.

Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene.

Gündüz M, Ekici F, Özaydın E, Ceylaner S, Perez B.

Eur J Pediatr. 2014 Dec;173(12):1707-10. doi: 10.1007/s00431-014-2330-6. Epub 2014 May 24.

PMID:
24853097
11.

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

Nogueira C, Aiello C, Cerone R, Martins E, Caruso U, Moroni I, Rizzo C, Diogo L, Leão E, Kok F, Deodato F, Schiaffino MC, Boenzi S, Danhaive O, Barbot C, Sequeira S, Locatelli M, Santorelli FM, Uziel G, Vilarinho L, Dionisi-Vici C.

Mol Genet Metab. 2008 Apr;93(4):475-80. doi: 10.1016/j.ymgme.2007.11.005. Epub 2007 Dec 27.

PMID:
18164228
12.

Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12.

Smith SE, Kinney HC, Swoboda KJ, Levy HL.

Mol Genet Metab. 2006 Jun;88(2):138-45. Epub 2006 Mar 30.

PMID:
16574454
13.

Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation.

Kılıç M, Özgül RK, Dursun A, Tokatlı A, Kalkanoğlu-Sivri HS, Anlar B, Fowler B, Coşkun T.

Turk J Pediatr. 2013 Nov-Dec;55(6):633-6.

PMID:
24577983
14.

Late-onset thrombocytic microangiopathy caused by cblC disease: association with a factor H mutation.

Guigonis V, Frémeaux-Bacchi V, Giraudier S, Favier R, Borderie D, Massy Z, Mougenot B, Rosenblatt DS, Deschênes G.

Am J Kidney Dis. 2005 Mar;45(3):588-95.

PMID:
15754282
15.

Remethylation defects: guidelines for clinical diagnosis and treatment.

Ogier de Baulny H, Gérard M, Saudubray JM, Zittoun J.

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

PMID:
9587031
16.

[Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria].

Liu YP, Ma YY, Wu TF, Wang Q, Li XY, Ding Y, Song JQ, Huang Y, Yang YL.

Zhonghua Er Ke Za Zhi. 2012 Jun;50(6):410-4. Chinese.

PMID:
22931934
17.

Glutathione metabolism in cobalamin deficiency type C (cblC).

Pastore A, Martinelli D, Piemonte F, Tozzi G, Boenzi S, Di Giovamberardino G, Petrillo S, Bertini E, Dionisi-Vici C.

J Inherit Metab Dis. 2014 Jan;37(1):125-9. doi: 10.1007/s10545-013-9605-3. Epub 2013 Apr 9.

PMID:
23568438
18.

Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin.

Enns GM, Barkovich AJ, Rosenblatt DS, Fredrick DR, Weisiger K, Ohnstad C, Packman S.

J Inherit Metab Dis. 1999 Jun;22(5):599-607.

PMID:
10399092
19.

[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
20.

Combined methylmalonic aciduria and homocystinuria cblC type of a Taiwanese infant with c.609G>A and C.567dupT mutations in the MMACHC gene.

Chang JT, Chen YY, Liu TT, Liu MY, Chiu PC.

Pediatr Neonatol. 2011 Aug;52(4):223-6. doi: 10.1016/j.pedneo.2011.05.006. Epub 2011 Jul 16.

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