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Items: 11

1.

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
2.

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.

3.

Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.

Jiang M, Liu L, Mei H, Li X, Cheng J, Cai Y.

J Pediatr Endocrinol Metab. 2015 Mar;28(3-4):375-80. doi: 10.1515/jpem-2014-0164.

PMID:
25781538
4.

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
5.

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
6.

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
7.

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.

8.

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing.

Lamperti C, Fang M, Invernizzi F, Liu X, Wang H, Zhang Q, Carrara F, Moroni I, Zeviani M, Zhang J, Ghezzi D.

Mol Genet Metab. 2012 Nov;107(3):403-8. doi: 10.1016/j.ymgme.2012.08.020. Epub 2012 Sep 7.

9.

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
10.

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
11.

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.

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