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Items: 1 to 20 of 153

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Molecular basis for dysfunction of some mutant forms of methylmalonyl-CoA mutase: deductions from the structure of methionine synthase.

Drennan CL, Matthews RG, Rosenblatt DS, Ledley FD, Fenton WA, Ludwig ML.

Proc Natl Acad Sci U S A. 1996 May 28;93(11):5550-5.

7.

Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations.

Ledley FD, Rosenblatt DS.

Hum Mutat. 1997;9(1):1-6. Review.

PMID:
8990001
9.

mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation.

Fuchshuber A, Mucha B, Baumgartner ER, Vollmer M, Hildebrandt F.

Hum Mutat. 2000 Aug;16(2):179.

PMID:
10923046
11.

Structure of the human methylmalonyl-CoA mutase (MUT) locus.

Nham SU, Wilkemeyer MF, Ledley FD.

Genomics. 1990 Dec;8(4):710-6.

PMID:
1980486
12.

Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations.

Dündar H, Özgül RK, Güzel-Ozantürk A, Dursun A, Sivri S, Aliefendioğlu D, Coşkun T, Tokatli A.

Mol Genet Metab. 2012 Aug;106(4):419-23. doi: 10.1016/j.ymgme.2012.05.014. Epub 2012 Jun 1.

PMID:
22727635
13.

Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia.

Ledley FD, Jansen R, Nham SU, Fenton WA, Rosenberg LE.

Proc Natl Acad Sci U S A. 1990 Apr;87(8):3147-50.

14.

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.

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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
17.

Immunochemical studies on cultured fibroblasts from patients with inherited methylmalonic acidemia.

Kolhouse JF, Utley C, Fenton WA, Rosenberg LE.

Proc Natl Acad Sci U S A. 1981 Dec;78(12):7737-41.

19.

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
20.

Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.

Chu J, Pupavac M, Watkins D, Tian X, Feng Y, Chen S, Fenter R, Zhang VW, Wang J, Wong LJ, Rosenblatt DS.

Mol Genet Metab. 2016 Aug;118(4):264-71. doi: 10.1016/j.ymgme.2016.05.014. Epub 2016 May 20.

PMID:
27233228

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