These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
216 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]
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. Clinical, biochemical and genetic characteristics and long-term follow-up of five patients with malonyl-CoA decarboxylase deficiency. Zhang JM; Hao LL; Qiu WJ; Zhang HW; Chen T; Ji WJ; Zhang Y; Liu F; Gu XF; Yang SH; Han LS Brain Dev; 2024 Oct; 46(9):286-293. PubMed ID: 39069445 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]