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Items: 1 to 20 of 96

1.

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.

2.

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
3.

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
4.

Malonyl coenzyme A decarboxylase deficiency.

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

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

PMID:
6145813
5.

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
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.

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
8.

A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment.

Celato A, Mitola C, Tolve M, Giannini MT, De Leo S, Carducci C, Carducci C, Leuzzi V.

Brain Dev. 2013 Aug;35(7):675-80. doi: 10.1016/j.braindev.2012.10.014. Epub 2012 Nov 22.

PMID:
23177061
9.

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.

10.

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
11.

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
12.

Malonyl-CoA decarboxylase deficiency: long-term follow-up of a patient new clinical features and novel mutations.

Polinati PP, Valanne L, Tyni T.

Brain Dev. 2015 Jan;37(1):107-13. doi: 10.1016/j.braindev.2014.02.001. Epub 2014 Mar 7.

PMID:
24613099
13.

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.

14.

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
15.

Mammalian ACSF3 protein is a malonyl-CoA synthetase that supplies the chain extender units for mitochondrial fatty acid synthesis.

Witkowski A, Thweatt J, Smith S.

J Biol Chem. 2011 Sep 30;286(39):33729-36. doi: 10.1074/jbc.M111.291591. Epub 2011 Aug 16.

16.

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.

Lerner-Ellis JP, Dobson CM, Wai T, Watkins D, Tirone JC, Leclerc D, Doré C, Lepage P, Gravel RA, Rosenblatt DS.

Hum Mutat. 2004 Dec;24(6):509-16. Erratum in: Hum Mutat. 2005 Mar;25(3):317.

PMID:
15523652
17.

Malonic aciduria: long-term follow-up of new patients detected by newborn screening.

Baertling F, Mayatepek E, Thimm E, Schlune A, Kovacevic A, Distelmaier F, Salomons GS, Meissner T.

Eur J Pediatr. 2014 Dec;173(12):1719-22. doi: 10.1007/s00431-014-2421-4. Epub 2014 Sep 20.

PMID:
25233985
18.

Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation.

Colak G, Pougovkina O, Dai L, Tan M, Te Brinke H, Huang H, Cheng Z, Park J, Wan X, Liu X, Yue WW, Wanders RJ, Locasale JW, Lombard DB, de Boer VC, Zhao Y.

Mol Cell Proteomics. 2015 Nov;14(11):3056-71. doi: 10.1074/mcp.M115.048850. Epub 2015 Aug 28.

20.

Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria.

Dobson CM, Gradinger A, Longo N, Wu X, Leclerc D, Lerner-Ellis J, Lemieux M, Belair C, Watkins D, Rosenblatt DS, Gravel RA.

Mol Genet Metab. 2006 Aug;88(4):327-33. Epub 2006 May 11.

PMID:
16697227

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