methylmalonic acid has been researched along with malonyl coenzyme a in 19 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 2 (10.53) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 0 (0.00) | 29.6817 |
2010's | 13 (68.42) | 24.3611 |
2020's | 4 (21.05) | 2.80 |
Authors | Studies |
---|---|
Fennessey, PV; Goodman, SI; Jellum, E; Mace, JW; McCabe, ER; Miles, BS | 1 |
Bankier, A; Brown, GK; Danks, DM; Scholem, RD | 1 |
Burch, M; Cleary, MA; Dixon, M; Footitt, EJ; Jakobs, C; Salomons, GS; Stafford, J | 1 |
Al-Thihli, K; Alfares, A; Anastasio, N; Braverman, N; Ha, KC; Majewski, J; Melançon, S; Mitchell, J; Nunez, LD; Rosenblatt, DS | 1 |
Barshop, BA; Berry, SA; Biesecker, LG; Carrillo-Carrasco, N; Champaigne, NL; Chandler, RJ; Chandrasekaran, SD; de Lonlay, P; Dorward, HM; Gavrilov, DK; Geschwind, MD; Hauser, NS; Huizing, M; James, PM; Johnston, JJ; Krause, C; Manoli, I; Nyhan, WL; O'Brien, K; Sapp, JC; Sloan, JL; Sysol, JR; Valayannopoulos, V; Venditti, CP | 1 |
Liang, D; Peng, J; Wu, L; Xue, J; Yin, F; Zhong, L; Zhou, M | 1 |
Grenier, MA; Huth, CM; Jefferies, JL; Leslie, ND; Page, KI; Prada, CE; Spicer, RL; Towbin, JA | 1 |
Davis-Keppen, L; Groeneveld, S; Lynch, DW; Ramirez, M; Reindl, BA; Tams, KC; Valbracht, M | 1 |
Carducci, C; Celato, A; De Leo, S; Giannini, MT; Leuzzi, V; Mitola, C; Tolve, M | 1 |
Polinati, PP; Tyni, T; Valanne, L | 1 |
Baertling, F; Distelmaier, F; Kovacevic, A; Mayatepek, E; Meissner, T; Salomons, GS; Schlune, A; Thimm, E | 1 |
Gao, X; Gong, Z; Gu, X; Han, L; Jin, J; Qiu, W; Wang, Y; Wu, S; Ye, J; Zhang, H | 1 |
Cheng, Z; Colak, G; Dai, L; de Boer, VC; Huang, H; Liu, X; Locasale, JW; Lombard, DB; Park, J; Pougovkina, O; Tan, M; Te Brinke, H; Wan, X; Wanders, RJ; Yue, WW; Zhao, Y | 1 |
Gu, X; Han, L; Liu, H; Qiu, W; Tan, D; Ye, J; Zhang, H | 1 |
Abu-Elheiga, LA; Ambati, CS; Shetty, V; Yuan, F; Zhang, Y | 1 |
Ko, JM; Lee, SH; Park, KS; Song, J; Song, MK | 1 |
Al-Kouatly, HB; Gabriel, MC; Mossayebi, MH; Rice, SM; Sloan, JL; Venditti, CP | 1 |
Çetin, II; Ceylan, AC; Civelek Ürey, B; Kasapkara, CS; Ünal Uzun, Ö | 1 |
Abily-Donval, L; Bekri, S; Goldenberg, A; Marret, S; Salomons, GS; Snanoudj, S; Sudrié-Arnaud, B; Tebani, A; Torre, S | 1 |
19 other study(ies) available for methylmalonic acid and malonyl coenzyme a
Article | Year |
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Methylmalonic/beta-hydroxy-n-valeric aciduria due to methylmalonyl-CoA mutase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Gas; Humans; Hydroxy Acids; Infant, Newborn; Infant, Newborn, Diseases; Isomerases; Liver; Male; Malonates; Malonyl Coenzyme A; Mass Spectrometry; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Pentanoic Acids; Valerates | 1978 |
Malonyl coenzyme A decarboxylase deficiency.
Topics: Acyl Coenzyme A; Carboxy-Lyases; Child, Preschool; Fatty Acid Synthases; Fibroblasts; Humans; Male; Malonates; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Mitochondria | 1984 |
Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy.
Topics: Angiotensin-Converting Enzyme Inhibitors; Captopril; Carboxy-Lyases; Cardiomyopathies; Carnitine; Child, Preschool; Combined Modality Therapy; Dietary Supplements; Female; Genetic Predisposition to Disease; Humans; Infant; Infant Formula; Infant Nutritional Physiological Phenomena; Infant, Newborn; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Mutation; Nutritional Status; Phenotype; Treatment Outcome; Triglycerides | 2010 |
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Base Sequence; Carboxy-Lyases; Coenzyme A Ligases; Exome; Genetic Association Studies; Humans; Infant; Malonates; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Molecular Sequence Data; Mutation; Pedigree; Phenotype; Sequence Analysis, DNA | 2011 |
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.
Topics: Adolescent; Aged; Amino Acid Sequence; Carboxy-Lyases; Child, Preschool; Coenzyme A Ligases; Exons; Female; Humans; Male; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Middle Aged; Molecular Sequence Data; Mutation, Missense | 2011 |
Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria.
Topics: Asian People; Base Sequence; Carboxy-Lyases; Child, Preschool; China; DNA Mutational Analysis; Heterozygote; Humans; Infant; Infant, Newborn; Male; Malonyl Coenzyme A; Metabolic Networks and Pathways; Metabolism, Inborn Errors; Methylmalonic Acid; Molecular Sequence Data; Mutation | 2012 |
Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathy.
Topics: Alleles; Carboxy-Lyases; Cardiomyopathies; Carnitine; Chromosome Aberrations; Chromosome Deletion; Codon, Terminator; Dietary Fats; DNA Mutational Analysis; Echocardiography, Doppler, Color; Female; Frameshift Mutation; Genes, Recessive; Homozygote; Humans; Infant; Infant Formula; Infant, Newborn; Isolated Noncompaction of the Ventricular Myocardium; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Neonatal Screening; Phenotype; Rare Diseases; Triglycerides | 2012 |
Sani-cloth wipe mimics rare enzyme deficiency malonic aciduria on newborn screen.
Topics: Blood Chemical Analysis; Carboxy-Lyases; Drug Contamination; Equipment and Supplies, Hospital; False Positive Reactions; Humans; Infant, Newborn; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Neonatal Screening | 2012 |
A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment.
Topics: Carboxy-Lyases; Child, Preschool; Early Diagnosis; Humans; Infant, Newborn; Male; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Mutation; Neonatal Screening | 2013 |
Malonyl-CoA decarboxylase deficiency: long-term follow-up of a patient new clinical features and novel mutations.
Topics: Adolescent; Age of Onset; Base Sequence; Blotting, Western; Carboxy-Lyases; Child; Child, Preschool; DNA Mutational Analysis; Female; Humans; Immunohistochemistry; Infant; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Molecular Sequence Data; Mutation; Polymerase Chain Reaction | 2015 |
Malonic aciduria: long-term follow-up of new patients detected by newborn screening.
Topics: Carboxy-Lyases; Child; Diagnosis, Differential; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Male; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Neonatal Screening; Siblings; Time Factors | 2014 |
Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening.
Topics: Acetylcarnitine; Acidosis; Asian People; Asymptomatic Diseases; Carboxy-Lyases; Carnitine; Carrier Proteins; Child; Citrates; Female; Gene Expression; Humans; Infant; Infant, Newborn; Male; Malonates; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Mutation; Neonatal Screening; Oxidoreductases | 2015 |
Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation.
Topics: Animals; Carboxy-Lyases; Cell Line; Fatty Acids; Fibroblasts; Humans; Liver; Lysine; Male; Malonates; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Mice; Mice, Knockout; Mitochondria; Models, Molecular; Oxidation-Reduction; Sirtuins | 2015 |
A new case of malonyl-CoA decarboxylase deficiency with mild clinical features.
Topics: Acidosis; Adolescent; Base Sequence; Carboxy-Lyases; Cardiomyopathies; Child; Chromosomes; Exons; Female; Humans; Malonates; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Microarray Analysis; Sequence Deletion | 2016 |
Identification and Quantitation of Malonic Acid Biomarkers of In-Born Error Metabolism by Targeted Metabolomics.
Topics: Animals; Biomarkers; Carboxy-Lyases; Female; Humans; Limit of Detection; Male; Malonates; Malonyl Coenzyme A; Mass Spectrometry; Metabolism, Inborn Errors; Metabolomics; Methylmalonic Acid; Mice, Inbred C57BL; Phenylhydrazines | 2017 |
A Korean child diagnosed with malonic aciduria harboring a novel start codon mutation following presentation with dilated cardiomyopathy.
Topics: Carboxy-Lyases; Cardiomyopathy, Dilated; Codon, Initiator; Humans; Infant; Male; Malonates; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Mutation; Phenotype | 2020 |
Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amniocentesis; Carboxy-Lyases; Coenzyme A Ligases; Female; Genetic Carrier Screening; Genetic Counseling; Heterozygote; Humans; Male; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Mutation; Pregnancy; Truth Disclosure | 2021 |
Malonyl coenzyme A decarboxylase deficiency with a novel mutation.
Topics: Carboxy-Lyases; Humans; Infant, Newborn; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Mutation | 2021 |
Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.
Topics: Carboxy-Lyases; Carnitine; Child, Preschool; Consanguinity; Homozygote; Humans; Male; Malonates; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Pedigree; Point Mutation | 2021 |