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Results: 1 to 20 of 95

1.

The methylmalonic aciduria related genes, Mmaa, Mmab, and Mut, are broadly expressed in placental and embryonic tissues during mouse organogenesis.

Moreno-Garcia MA, Rosenblatt DS, Jerome-Majewska LA.

Mol Genet Metab. 2012 Nov;107(3):368-74. doi: 10.1016/j.ymgme.2012.09.009. Epub 2012 Sep 10.

PMID:
23022071
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation.

Froese DS, Kochan G, Muniz JR, Wu X, Gileadi C, Ugochukwu E, Krysztofinska E, Gravel RA, Oppermann U, Yue WW.

J Biol Chem. 2010 Dec 3;285(49):38204-13. doi: 10.1074/jbc.M110.177717. Epub 2010 Sep 28.

PMID:
20876572
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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
[PubMed - indexed for MEDLINE]
8.

A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality.

Peters H, Nefedov M, Sarsero J, Pitt J, Fowler KJ, Gazeas S, Kahler SG, Ioannou PA.

J Biol Chem. 2003 Dec 26;278(52):52909-13. Epub 2003 Oct 10.

PMID:
14555645
[PubMed - indexed for MEDLINE]
Free Article
9.

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]
10.

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
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

Differential diagnosis of mut and cbl methylmalonic aciduria by DNA-mediated gene transfer in primary fibroblasts.

Wilkemeyer MF, Crane AM, Ledley FD.

J Clin Invest. 1991 Mar;87(3):915-8.

PMID:
1671869
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Expression of Mmachc and Mmadhc during mouse organogenesis.

Pupavac M, Garcia MA, Rosenblatt DS, Jerome-Majewska LA.

Mol Genet Metab. 2011 Aug;103(4):401-5. doi: 10.1016/j.ymgme.2011.04.004. Epub 2011 Apr 17.

PMID:
21536470
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes.

Chandler RJ, Tsai MS, Dorko K, Sloan J, Korson M, Freeman R, Strom S, Venditti CP.

BMC Med Genet. 2007 Apr 30;8:24.

PMID:
17470278
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Liver-directed recombinant adeno-associated viral gene delivery rescues a lethal mouse model of methylmalonic acidemia and provides long-term phenotypic correction.

Carrillo-Carrasco N, Chandler RJ, Chandrasekaran S, Venditti CP.

Hum Gene Ther. 2010 Sep;21(9):1147-54. doi: 10.1089/hum.2010.008.

PMID:
20486773
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Mitochondrial dysfunction in mut methylmalonic acidemia.

Chandler RJ, Zerfas PM, Shanske S, Sloan J, Hoffmann V, DiMauro S, Venditti CP.

FASEB J. 2009 Apr;23(4):1252-61. doi: 10.1096/fj.08-121848. Epub 2008 Dec 16.

PMID:
19088183
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Seven novel mutations in mut methylmalonic aciduria.

Adjalla CE, Hosack AR, Gilfix BM, Lamothe E, Sun S, Chan A, Evans S, Matiaszuk NV, Rosenblatt DS.

Hum Mutat. 1998;11(4):270-4.

PMID:
9554742
[PubMed - indexed for MEDLINE]
19.

Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia.

Crane AM, Ledley FD.

Am J Hum Genet. 1994 Jul;55(1):42-50.

PMID:
7912889
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Spatio-temporal expression of Pbx3 during mouse organogenesis.

Di Giacomo G, Koss M, Capellini TD, Brendolan A, Pöpperl H, Selleri L.

Gene Expr Patterns. 2006 Oct;6(7):747-57. Epub 2006 Jan 24.

PMID:
16434237
[PubMed - indexed for MEDLINE]

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