Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 93

Similar articles for PubMed (Select 23177061)

1.

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
2.

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
3.

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.

4.

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
5.

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.

PMID:
17535268
6.

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
7.

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
8.
9.

Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.

Wood JC, Magera MJ, Rinaldo P, Seashore MR, Strauss AW, Friedman A.

Pediatrics. 2001 Jul;108(1):E19.

PMID:
11433098
10.

Malonyl coenzyme A decarboxylase deficiency.

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

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

PMID:
6145813
11.

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.

12.

MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency.

Wightman PJ, Santer R, Ribes A, Dougherty F, McGill N, Thorburn DR, FitzPatrick DR.

Hum Mutat. 2003 Oct;22(4):288-300.

PMID:
12955715
13.
14.

[Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria].

Liu YP, Ma YY, Wu TF, Wang Q, Li XY, Ding Y, Song JQ, Huang Y, Yang YL.

Zhonghua Er Ke Za Zhi. 2012 Jun;50(6):410-4. Chinese.

PMID:
22931934
15.

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.

16.

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
17.

A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy.

Yano S, Sweetman L, Thorburn DR, Mofidi S, Williams JC.

Eur J Pediatr. 1997 May;156(5):382-3.

PMID:
9177981
18.

Sani-cloth wipe mimics rare enzyme deficiency malonic aciduria on newborn screen.

Reindl BA, Lynch DW, Ramirez M, Valbracht M, Davis-Keppen L, Tams KC, Groeneveld S.

Pediatrics. 2012 Nov;130(5):e1363-8. doi: 10.1542/peds.2012-0569. Epub 2012 Oct 15.

19.

Malonyl CoA decarboxylase deficiency: C to T transition in intron 2 of the MCD gene.

Surendran S, Sacksteder KA, Gould SJ, Coldwell JG, Rady PL, Tyring SK, Matalon R.

J Neurosci Res. 2001 Sep 15;65(6):591-4.

PMID:
11550227
20.

[Diagnosis and treatment of methylmalonic aciduria: a case report].

Mahfoud A, Domínguez CL, Pérez A, Rizzo C, Merinero B, Pérez B.

Invest Clin. 2007 Mar;48(1):99-105. Spanish.

PMID:
17432548
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk