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Results: 1 to 20 of 105

1.

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
[PubMed - indexed for MEDLINE]
2.

The molecular basis of malonyl-CoA decarboxylase deficiency.

FitzPatrick DR, Hill A, Tolmie JL, Thorburn DR, Christodoulou J.

Am J Hum Genet. 1999 Aug;65(2):318-26.

PMID:
10417274
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
6.

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.

PMID:
9869665
[PubMed - indexed for MEDLINE]
Free Article
7.

Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia.

Campeau E, Dupuis L, León-Del-Rio A, Gravel R.

Mol Genet Metab. 1999 May;67(1):11-22.

PMID:
10329019
[PubMed - indexed for MEDLINE]
8.

MCD encodes peroxisomal and cytoplasmic forms of malonyl-CoA decarboxylase and is mutated in malonyl-CoA decarboxylase deficiency.

Sacksteder KA, Morrell JC, Wanders RJ, Matalon R, Gould SJ.

J Biol Chem. 1999 Aug 27;274(35):24461-8.

PMID:
10455107
[PubMed - indexed for MEDLINE]
Free Article
9.

Mutations participating in interallelic complementation in propionic acidemia.

Gravel RA, Akerman BR, Lamhonwah AM, Loyer M, Léon-del-Rio A, Italiano I.

Am J Hum Genet. 1994 Jul;55(1):51-8.

PMID:
8023851
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.

Iacobazzi V, Invernizzi F, Baratta S, Pons R, Chung W, Garavaglia B, Dionisi-Vici C, Ribes A, Parini R, Huertas MD, Roldan S, Lauria G, Palmieri F, Taroni F.

Hum Mutat. 2004 Oct;24(4):312-20.

PMID:
15365988
[PubMed - indexed for MEDLINE]
11.

Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene.

Campeau E, Dupuis L, Leclerc D, Gravel RA.

Hum Mol Genet. 1999 Jan;8(1):107-13.

PMID:
9887338
[PubMed - indexed for MEDLINE]
Free Article
12.

Cloning and expression of rat pancreatic beta-cell malonyl-CoA decarboxylase.

Voilley N, Roduit R, Vicaretti R, Bonny C, Waeber G, Dyck JR, Lopaschuk GD, Prentki M.

Biochem J. 1999 May 15;340 ( Pt 1):213-7.

PMID:
10229677
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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. 2014 Mar 7. pii: S0387-7604(14)00039-4. doi: 10.1016/j.braindev.2014.02.001. [Epub ahead of print]

PMID:
24613099
[PubMed - as supplied by publisher]
14.

Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation.

Danpure CJ, Purdue PE, Fryer P, Griffiths S, Allsop J, Lumb MJ, Guttridge KM, Jennings PR, Scheinman JI, Mauer SM, et al.

Am J Hum Genet. 1993 Aug;53(2):417-32.

PMID:
8101040
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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
[PubMed - indexed for MEDLINE]
16.
17.

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
[PubMed - indexed for MEDLINE]
18.

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
[PubMed - indexed for MEDLINE]
19.

Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency.

de Wit MC, de Coo IF, Verbeek E, Schot R, Schoonderwoerd GC, Duran M, de Klerk JB, Huijmans JG, Lequin MH, Verheijen FW, Mancini GM.

Mol Genet Metab. 2006 Feb;87(2):102-6. Epub 2005 Nov 4.

PMID:
16275149
[PubMed - indexed for MEDLINE]
20.

Rat malonyl-CoA decarboxylase; cloning, expression in E. coli and its biochemical characterization.

Lee GY, Bahk YY, Kim YS.

J Biochem Mol Biol. 2002 Mar 31;35(2):213-9.

PMID:
12297032
[PubMed - indexed for MEDLINE]
Free Article

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