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Items: 1 to 20 of 222

1.

Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.

Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melançon S, Anastasio N, Ha KC, Majewski J, Rosenblatt DS, Braverman N.

J Med Genet. 2011 Sep;48(9):602-5. doi: 10.1136/jmedgenet-2011-100230. Epub 2011 Jul 23.

PMID:
21785126
2.

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.

3.

Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: a case supporting multiple aetiologies.

Gregg AR, Warman AW, Thorburn DR, O'Brien WE.

J Inherit Metab Dis. 1998 Jun;21(4):382-90.

PMID:
9700595
4.

Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency.

Salomons GS, Jakobs C, Pope LL, Errami A, Potter M, Nowaczyk M, Olpin S, Manning N, Raiman JA, Slade T, Champion MP, Peck D, Gavrilov D, Hillman R, Hoganson GE, Donaldson K, Shield JP, Ketteridge D, Wasserstein M, Gibson KM.

J Inherit Metab Dis. 2007 Feb;30(1):23-8. Epub 2006 Dec 20.

PMID:
17186413
5.

Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase.

Gao J, Waber L, Bennett MJ, Gibson KM, Cohen JC.

J Lipid Res. 1999 Jan;40(1):178-82.

6.

Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy.

Footitt EJ, Stafford J, Dixon M, Burch M, Jakobs C, Salomons GS, Cleary MA.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S253-6. doi: 10.1007/s10545-010-9137-z. Epub 2010 Jun 15.

PMID:
20549361
7.

Malonic aciduria in Maltese dogs: normal methylmalonic acid concentrations and malonyl-CoA decarboxylase activity in fibroblasts.

O'Brien DP, Barshop BA, Faunt KK, Johnson GC, Gibson KM, Shelton GD.

J Inherit Metab Dis. 1999 Dec;22(8):883-90.

PMID:
10604140
8.

A new case of malonyl-CoA decarboxylase deficiency with mild clinical features.

Liu H, Tan D, Han L, Ye J, Qiu W, Gu X, Zhang H.

Am J Med Genet A. 2016 May;170A(5):1347-51. doi: 10.1002/ajmg.a.37590. Epub 2016 Feb 9.

PMID:
26858006
9.

Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16.

Malvagia S, Papi L, Morrone A, Donati MA, Ciani F, Pasquini E, la Marca G, Scholte HR, Genuardi M, Zammarchi E.

Ann Hum Genet. 2007 Nov;71(Pt 6):705-12. Epub 2007 May 29.

10.

Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations.

Lempp TJ, Suormala T, Siegenthaler R, Baumgartner ER, Fowler B, Steinmann B, Baumgartner MR.

Mol Genet Metab. 2007 Mar;90(3):284-90. Epub 2006 Nov 20.

PMID:
17113806
11.

Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening.

Han L, Wu S, Ye J, Qiu W, Zhang H, Gao X, Wang Y, Gong Z, Jin J, Gu X.

Am J Med Genet A. 2015 Oct;167A(10):2300-5. doi: 10.1002/ajmg.a.37147. Epub 2015 May 17.

PMID:
25982642
12.

A New Approach for Fast Metabolic Diagnostics in CMAMMA.

de Sain-van der Velden MG, van der Ham M, Jans JJ, Visser G, Prinsen HC, Verhoeven-Duif NM, van Gassen KL, van Hasselt PM.

JIMD Rep. 2016;30:15-22. Epub 2016 Feb 27.

13.

Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathy.

Prada CE, Jefferies JL, Grenier MA, Huth CM, Page KI, Spicer RL, Towbin JA, Leslie ND.

Pediatrics. 2012 Aug;130(2):e456-60. doi: 10.1542/peds.2011-2927. Epub 2012 Jul 9.

14.

Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria.

Xue J, Peng J, Zhou M, Zhong L, Yin F, Liang D, Wu L.

Mol Genet Metab. 2012 Jan;105(1):79-83. doi: 10.1016/j.ymgme.2011.09.007. Epub 2011 Sep 16.

PMID:
22104738
15.

Occurrences of methylmalonic aciduria and Hartnup disorder in the same family.

Shih VE, Coulombe JT, Wadman SK, Duran M, Waelkens JJ.

Clin Genet. 1984 Sep;26(3):216-20.

PMID:
6478642
16.

A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.

Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M.

Hum Mutat. 2006 Jul;27(7):640-3.

PMID:
16752391
17.

Malonyl coenzyme A decarboxylase deficiency.

Brown GK, Scholem RD, Bankier A, Danks DM.

J Inherit Metab Dis. 1984;7(1):21-6.

PMID:
6145813
18.

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
19.

[Analysis of the MUT gene mutations in patients with methylmalonic acidemia].

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

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Oct;26(5):485-9. doi: 10.3760/cma.j.issn.1003-9406.2009.05.001. Chinese.

PMID:
19806564
20.

Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism.

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

Mol Genet Metab. 2016 Mar;117(3):363-8. doi: 10.1016/j.ymgme.2016.01.008. Epub 2016 Jan 23.

PMID:
26827111

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