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Items: 1 to 20 of 136

1.

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
2.

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.

3.

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.

4.

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.

5.

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.

PMID:
22778304
6.

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
7.

Impaired mitochondrial fatty acid oxidative flux in fibroblasts from a patient with malonyl-CoA decarboxylase deficiency.

Bennett MJ, Harthcock PA, Boriack RL, Cohen JC.

Mol Genet Metab. 2001 Jul;73(3):276-9.

PMID:
11461195
8.

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
9.

Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency.

Shevell MI, Matthews PM, Scriver CR, Brown RM, Otero LJ, Legris M, Brown GK, Arnold DL.

Pediatr Neurol. 1994 Oct;11(3):224-9.

PMID:
7880337
10.

Cerebellar cortical dysplasia: MR findings in a complex entity.

Soto-Ares G, Delmaire C, Deries B, Vallee L, Pruvo JP.

AJNR Am J Neuroradiol. 2000 Sep;21(8):1511-9.

11.

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
12.

MRI and MRS in HMG-CoA lyase deficiency.

Yalçinkaya C, Dinçer A, Gündüz E, Fiçicioğlu C, Koçer N, Aydin A.

Pediatr Neurol. 1999 May;20(5):375-80. Review.

PMID:
10371384
13.

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
14.

Brain malformation and infantile spasms in a SCAD deficiency patient.

Mikati MA, Chaaban HR, Karam PE, Krishnamoorthy KS.

Pediatr Neurol. 2007 Jan;36(1):48-50.

PMID:
17162197
15.
16.

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
17.

[MR imaging in congenital disorders of the brain].

Ertl-Wagner B, Rummeny C, von Voss H, Reiser M.

Nervenarzt. 2006 Dec;77(12):1521-35; quiz 1536. German.

PMID:
17695644
18.

Lissencephaly with agenesis of corpus callosum and rudimentary dysplastic cerebellum: a subtype of lissencephaly with cerebellar hypoplasia.

Miyata H, Chute DJ, Fink J, Villablanca P, Vinters HV.

Acta Neuropathol. 2004 Jan;107(1):69-81. Epub 2003 Oct 18.

PMID:
14566414
19.

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.

Harting I, Neumaier-Probst E, Seitz A, Maier EM, Assmann B, Baric I, Troncoso M, Mühlhausen C, Zschocke J, Boy NP, Hoffmann GF, Garbade SF, Kölker S.

Brain. 2009 Jul;132(Pt 7):1764-82. doi: 10.1093/brain/awp112. Epub 2009 May 11.

PMID:
19433437
20.

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

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