139 related articles for article (PubMed ID: 3709568)
1. Malonyl coenzyme A decarboxylase deficiency. Clinical and biochemical findings in a second child with a more severe enzyme defect.
Haan EA; Scholem RD; Croll HB; Brown GK
Eur J Pediatr; 1986 Apr; 144(6):567-70. PubMed ID: 3709568
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 9700595
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 26858006
[TBL] [Abstract][Full Text] [Related]
4. Malonyl coenzyme A decarboxylase deficiency.
Brown GK; Scholem RD; Bankier A; Danks DM
J Inherit Metab Dis; 1984; 7(1):21-6. PubMed ID: 6145813
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 9177981
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 9869665
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 10604140
[TBL] [Abstract][Full Text] [Related]
8. Malonyl coenzyme A decarboxylase deficiency.
MacPhee GB; Logan RW; Mitchell JS; Howells DW; Tsotsis E; Thorburn DR
Arch Dis Child; 1993 Oct; 69(4):433-6. PubMed ID: 8259873
[TBL] [Abstract][Full Text] [Related]
9. Malonyl coenzyme A decarboxylase deficiency with a novel mutation.
Kasapkara CS; Civelek Ürey B; Ceylan AC; Ünal Uzun Ö; Çetin II
Cardiol Young; 2021 Sep; 31(9):1535-1537. PubMed ID: 33745485
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 20549361
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 11461195
[TBL] [Abstract][Full Text] [Related]
12. Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.
Snanoudj S; Torre S; Sudrié-Arnaud B; Abily-Donval L; Goldenberg A; Salomons GS; Marret S; Bekri S; Tebani A
Int J Mol Sci; 2021 Nov; 22(23):. PubMed ID: 34884438
[TBL] [Abstract][Full Text] [Related]
13. A Korean child diagnosed with malonic aciduria harboring a novel start codon mutation following presentation with dilated cardiomyopathy.
Lee SH; Ko JM; Song MK; Song J; Park KS
Mol Genet Genomic Med; 2020 Sep; 8(9):e1379. PubMed ID: 32602666
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 22778304
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 21785126
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 17535268
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 17186413
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 26320211
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 24613099
[TBL] [Abstract][Full Text] [Related]
20. Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients.
Chapel-Crespo C; Gavrilov D; Sowa M; Myers J; Day-Salvatore DL; Lynn H; Regier D; Starin D; Steenari M; Schoonderwoerd K; Abdenur JE
Mol Genet Metab; 2019; 128(1-2):113-121. PubMed ID: 31395333
[No Abstract] [Full Text] [Related]
[Next] [New Search]
