Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 132

1.

High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria.

Illson ML, Dempsey-Nunez L, Kent J, Huang Q, Brebner A, Raff ML, Watkins D, Gilfix BM, Wittwer CT, Rosenblatt DS.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):86-9. doi: 10.1016/j.ymgme.2013.04.020. Epub 2013 May 4.

PMID:
23707710
2.

Ligand-binding by catalytically inactive mutants of the cblB complementation group defective in human ATP:cob(I)alamin adenosyltransferase.

Zhang J, Wu X, Padovani D, Schubert HL, Gravel RA.

Mol Genet Metab. 2009 Nov;98(3):278-84. doi: 10.1016/j.ymgme.2009.06.014. Epub 2009 Jun 27.

PMID:
19625202
3.

Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria.

Lerner-Ellis JP, Gradinger AB, Watkins D, Tirone JC, Villeneuve A, Dobson CM, Montpetit A, Lepage P, Gravel RA, Rosenblatt DS.

Mol Genet Metab. 2006 Mar;87(3):219-25. Epub 2006 Jan 10.

PMID:
16410054
4.

Impact of cblB mutations on the function of ATP:cob(I)alamin adenosyltransferase in disorders of vitamin B12 metabolism.

Zhang J, Dobson CM, Wu X, Lerner-Ellis J, Rosenblatt DS, Gravel RA.

Mol Genet Metab. 2006 Apr;87(4):315-22. Epub 2006 Jan 24.

PMID:
16439175
5.

Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia.

Vatanavicharn N, Champattanachai V, Liammongkolkul S, Sawangareetrakul P, Keeratichamroen S, Ketudat Cairns JR, Srisomsap C, Sathienkijkanchai A, Shotelersuk V, Kamolsilp M, Wattanasirichaigoon D, Svasti J, Wasant P.

Mol Genet Metab. 2012 Aug;106(4):424-9. doi: 10.1016/j.ymgme.2012.05.012. Epub 2012 May 29.

PMID:
22695176
6.

Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.

Martínez MA, Rincón A, Desviat LR, Merinero B, Ugarte M, Pérez B.

Mol Genet Metab. 2005 Apr;84(4):317-25. Epub 2005 Jan 22.

PMID:
15781192
7.

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
8.

Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).

Hörster F, Baumgartner MR, Viardot C, Suormala T, Burgard P, Fowler B, Hoffmann GF, Garbade SF, Kölker S, Baumgartner ER.

Pediatr Res. 2007 Aug;62(2):225-30.

PMID:
17597648
9.

Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia.

Keeratichamroen S, Cairns JR, Sawangareetrakul P, Liammongkolkul S, Champattanachai V, Srisomsap C, Kamolsilp M, Wasant P, Svasti J.

Biochem Genet. 2007 Jun;45(5-6):421-30. Epub 2007 Apr 5.

PMID:
17410422
10.

High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria.

Dempsey-Nunez L, Illson ML, Kent J, Huang Q, Brebner A, Watkins D, Gilfix BM, Wittwer CT, Rosenblatt DS.

Mol Genet Metab. 2012 Nov;107(3):363-7. doi: 10.1016/j.ymgme.2012.09.012. Epub 2012 Sep 15.

PMID:
23026888
11.

Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant.

Leal NA, Park SD, Kima PE, Bobik TA.

J Biol Chem. 2003 Mar 14;278(11):9227-34. Epub 2003 Jan 3.

12.

Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria.

Dobson CM, Wai T, Leclerc D, Kadir H, Narang M, Lerner-Ellis JP, Hudson TJ, Rosenblatt DS, Gravel RA.

Hum Mol Genet. 2002 Dec 15;11(26):3361-9.

13.

[A Chinese boy with methylmalonic aciduria cblB type and a novel mutation in the MMAB gene].

Liu YP, Wang HJ, Wu TF, Li XY, Song JQ, Ding Y, Zhang Y, Wang Q, Yang YL.

Zhongguo Dang Dai Er Ke Za Zhi. 2015 Feb;17(2):172-5. Chinese.

14.

Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies.

Brasil S, Richard E, Jorge-Finnigan A, Leal F, Merinero B, Banerjee R, Desviat LR, Ugarte M, Pérez B.

Clin Genet. 2015 Jun;87(6):576-81. doi: 10.1111/cge.12426. Epub 2014 Jun 6.

15.

Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type.

Jorge-Finnigan A, Brasil S, Underhaug J, Ruíz-Sala P, Merinero B, Banerjee R, Desviat LR, Ugarte M, Martinez A, Pérez B.

Hum Mol Genet. 2013 Sep 15;22(18):3680-9. doi: 10.1093/hmg/ddt217. Epub 2013 May 13.

16.

Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation.

Yang X, Sakamoto O, Matsubara Y, Kure S, Suzuki Y, Aoki Y, Suzuki Y, Sakura N, Takayanagi M, Iinuma K, Ohura T.

Mol Genet Metab. 2004 Aug;82(4):329-33.

PMID:
15308131
17.

Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia.

Sawangareetrakul P, Ketudat Cairns JR, Vatanavicharn N, Liammongkolkul S, Wasant P, Svasti J, Champattanachai V.

Biochem Genet. 2015 Dec;53(11-12):310-8. doi: 10.1007/s10528-015-9694-9. Epub 2015 Sep 14.

PMID:
26370686
18.

Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.

Merinero B, Pérez B, Pérez-Cerdá C, Rincón A, Desviat LR, Martínez MA, Sala PR, García MJ, Aldamiz-Echevarría L, Campos J, Cornejo V, Del Toro M, Mahfoud A, Martínez-Pardo M, Parini R, Pedrón C, Peña-Quintana L, Pérez M, Pourfarzam M, Ugarte M.

J Inherit Metab Dis. 2008 Feb;31(1):55-66. Epub 2007 Oct 22.

PMID:
17957493
19.

Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.

Jorge-Finnigan A, Aguado C, Sánchez-Alcudia R, Abia D, Richard E, Merinero B, Gámez A, Banerjee R, Desviat LR, Ugarte M, Pérez B.

Hum Mutat. 2010 Sep;31(9):1033-42. doi: 10.1002/humu.21307.

20.

Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism.

Chandler RJ, Aswani V, Tsai MS, Falk M, Wehrli N, Stabler S, Allen R, Sedensky M, Kazazian HH, Venditti CP.

Mol Genet Metab. 2006 Sep-Oct;89(1-2):64-73. Epub 2006 Jul 14.

Items per page

Supplemental Content

Write to the Help Desk