3-methylglutaconic acid has been researched along with Cardiomyopathies in 10 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 2 (20.00) | 18.2507 |
2000's | 5 (50.00) | 29.6817 |
2010's | 1 (10.00) | 24.3611 |
2020's | 2 (20.00) | 2.80 |
Authors | Studies |
---|---|
Elsea, SH; Gijavanekar, C; Mackay, L; Price, JF; Scaglia, F; Streff, H | 1 |
Adorisio, R; Baban, A; Calì, F; Carrozzo, R; Corica, B; Dallapiccola, B; Dionisi-Vici, C; Drago, F; Magliozzi, M; Parisi, F; Rizzo, C; Semeraro, M; Taurisano, R; Vaz, FM | 1 |
Avramopoulos, D; DeCroes, B; Kristaponis, K; McClellan, R; Rubens, J; Thompson, WR; Vaz, FM; Vernon, HJ | 1 |
de Vries, MC; Engelke, UF; Heldt, K; Huizing, M; Jonckheere, A; Kluijtmans, LA; Morava, E; Rodenburg, RJ; Smeitink, JA; van den Heuvel, LP; Wendel, U; Wevers, RA; Wortmann, SB | 1 |
Bateman, C | 1 |
Blanck, TJ; DiMauro, S; Feigenbaum, A; Heerdt, PM; Kelley, RI; Schieble, T; Schlame, M; Towbin, JA; Wanders, RJ | 1 |
Birkebaek, N; Gonzalez, I; Schmidt, MR; Sunde, L | 1 |
Arn, P; Funanage, VL | 1 |
Besley, GT; Broadhead, DM; Heptinstall, LE; Lendon, M; Phillips, B; Till, J | 1 |
Cox, GF; Feigenbaum, A; Funanage, VL; Iyer, GS; Johnston, J; Kelley, RI; Proujansky, R | 1 |
10 other study(ies) available for 3-methylglutaconic acid and Cardiomyopathies
Article | Year |
---|---|
Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency.
Topics: Aorta, Thoracic; Cardiomyopathies; Dilatation; Humans; Male; Membrane Proteins; Mitochondrial Proteins; Phenotype | 2023 |
Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.
Topics: Acyltransferases; Adult; Age of Onset; Barth Syndrome; Cardiomyopathies; Child; Female; Glutarates; Humans; Infant; Infant, Newborn; Male; Membrane Proteins; Metabolic Syndrome; Metabolism, Inborn Errors; Mitochondrial Proteins; Mutation; Transcription Factors | 2020 |
New targets for monitoring and therapy in Barth syndrome.
Topics: Acyltransferases; Adolescent; Adult; Barth Syndrome; Cardiolipins; Cardiomyopathies; Child; Child, Preschool; Echocardiography; Genotype; Glutarates; Humans; Male; Muscle Strength; Phenotype; Transcription Factors; Young Adult | 2016 |
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.
Topics: Adenosine Triphosphatases; Brain; Brain Diseases, Metabolic, Inborn; Cardiomyopathies; Carrier Proteins; DNA Polymerase gamma; DNA-Directed DNA Polymerase; Facies; Female; Glutarates; Humans; Infant, Newborn; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Membrane Proteins; Metabolism, Inborn Errors; Mitochondrial Diseases; Mitochondrial Proteins; Mitochondrial Proton-Translocating ATPases; Mutation; Phenotype; Ryanodine Receptor Calcium Release Channel | 2009 |
Little known killer: Barth syndrome.
Topics: Acyltransferases; Cardiomyopathies; Child; Genetic Diseases, X-Linked; Glutarates; Growth Disorders; Humans; Male; Muscle Weakness; Neutropenia; Pedigree; Proteins; Syndrome; Transcription Factors | 2003 |
Phospholipid abnormalities in children with Barth syndrome.
Topics: Acyltransferases; Blood Platelets; Cardiolipins; Cardiomyopathies; Fibroblasts; Glutarates; Growth Disorders; Heart Ventricles; Lymphocytes; Muscle, Skeletal; Muscular Diseases; Mutation; Myocardium; Neutropenia; Phospholipids; Proteins; Syndrome; Transcription Factors | 2003 |
Barth syndrome without 3-methylglutaconic aciduria.
Topics: Arginine; Cardiomyopathies; Chromosomes, Human, X; Fatal Outcome; Glutarates; Glycine; Humans; Infant, Newborn; Male; Muscular Diseases; Mutation; Mutation, Missense; Pedigree; Syndrome | 2004 |
3-methylglutaconic aciduria disorders: the clinical spectrum increases.
Topics: Acyltransferases; Cardiomyopathies; Consanguinity; Glutarates; Humans; Hydro-Lyases; Male; Metabolism, Inborn Errors; Myelodysplastic Syndromes; Phenotype; Proteins; Transcription Factors | 2006 |
Mitochondrial complex deficiencies in a male with cardiomyopathy and 3-methylglutaconic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Cardiomyopathies; Child; DNA Mutational Analysis; Electron Transport; Fatal Outcome; Glutarates; Humans; Male; Mitochondria, Muscle; Mitochondrial Myopathies | 1995 |
Mutation characterization and genotype-phenotype correlation in Barth syndrome.
Topics: Acyltransferases; Cardiomyopathies; DNA Mutational Analysis; DNA Primers; Genetic Linkage; Genetic Markers; Genotype; Glutarates; Humans; Lymphocytes; Male; Mutation; Neutropenia; Pedigree; Phenotype; Polymerase Chain Reaction; Proteins; RNA Splicing; Sequence Analysis, DNA; Syndrome; Transcription Factors; X Chromosome | 1997 |