220 related articles for article (PubMed ID: 21841779)
1. 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; ; 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; 43(9):883-6. PubMed ID: 21841779
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.
Levtova A; Waters PJ; Buhas D; Lévesque S; Auray-Blais C; Clarke JTR; Laframboise R; Maranda B; Mitchell GA; Brunel-Guitton C; Braverman NE
J Inherit Metab Dis; 2019 Jan; 42(1):107-116. PubMed ID: 30740739
[TBL] [Abstract][Full Text] [Related]
4. Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria.
Gabriel MC; Rice SM; Sloan JL; Mossayebi MH; Venditti CP; Al-Kouatly HB
Mol Genet Genomic Med; 2021 Apr; 9(4):e1621. PubMed ID: 33625768
[TBL] [Abstract][Full Text] [Related]
5. Combined Malonic and Methylmalonic Aciduria Due to
Wang P; Shu J; Gu C; Yu X; Zheng J; Zhang C; Cai C
Front Pediatr; 2021; 9():751895. PubMed ID: 34900860
[No Abstract] [Full Text] [Related]
6. 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]
7. 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]
8. 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. PubMed ID: 22104738
[TBL] [Abstract][Full Text] [Related]
9. Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria.
Tucci S
Orphanet J Rare Dis; 2020 Jan; 15(1):27. PubMed ID: 31969167
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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. PubMed ID: 23177061
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Role of the malonyl-CoA synthetase ACSF3 in mitochondrial metabolism.
Bowman CE; Wolfgang MJ
Adv Biol Regul; 2019 Jan; 71():34-40. PubMed ID: 30201289
[TBL] [Abstract][Full Text] [Related]
17. Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening.
Han L; Wu S; Ye J; Qiu W; Zhang H; Gao X; Wang Y; Gong Z; Jin J; Gu X
Am J Med Genet A; 2015 Oct; 167A(10):2300-5. PubMed ID: 25982642
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. A New Approach for Fast Metabolic Diagnostics in CMAMMA.
de Sain-van der Velden MG; van der Ham M; Jans JJ; Visser G; Prinsen HC; Verhoeven-Duif NM; van Gassen KL; van Hasselt PM
JIMD Rep; 2016; 30():15-22. PubMed ID: 26915364
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
