Page last updated: 2024-08-26

3-methylglutaconic acid and Cardiomyopathies

3-methylglutaconic acid has been researched along with Cardiomyopathies in 10 studies

Research

Studies (10)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (20.00)18.2507
2000's5 (50.00)29.6817
2010's1 (10.00)24.3611
2020's2 (20.00)2.80

Authors

AuthorsStudies
Elsea, SH; Gijavanekar, C; Mackay, L; Price, JF; Scaglia, F; Streff, H1
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, FM1
Avramopoulos, D; DeCroes, B; Kristaponis, K; McClellan, R; Rubens, J; Thompson, WR; Vaz, FM; Vernon, HJ1
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, SB1
Bateman, C1
Blanck, TJ; DiMauro, S; Feigenbaum, A; Heerdt, PM; Kelley, RI; Schieble, T; Schlame, M; Towbin, JA; Wanders, RJ1
Birkebaek, N; Gonzalez, I; Schmidt, MR; Sunde, L1
Arn, P; Funanage, VL1
Besley, GT; Broadhead, DM; Heptinstall, LE; Lendon, M; Phillips, B; Till, J1
Cox, GF; Feigenbaum, A; Funanage, VL; Iyer, GS; Johnston, J; Kelley, RI; Proujansky, R1

Other Studies

10 other study(ies) available for 3-methylglutaconic acid and Cardiomyopathies

ArticleYear
Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency.
    American journal of medical genetics. Part A, 2023, Volume: 191, Issue:5

    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.
    American journal of medical genetics. Part A, 2020, Volume: 182, Issue:1

    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.
    Genetics in medicine : official journal of the American College of Medical Genetics, 2016, Volume: 18, Issue:10

    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.
    Brain : a journal of neurology, 2009, Volume: 132, Issue:Pt 1

    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.
    South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 2003, Volume: 93, Issue:4

    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.
    Journal of the American College of Cardiology, 2003, Dec-03, Volume: 42, Issue:11

    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.
    Acta paediatrica (Oslo, Norway : 1992), 2004, Volume: 93, Issue:3

    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.
    Journal of pediatric hematology/oncology, 2006, Volume: 28, Issue:2

    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.
    Journal of inherited metabolic disease, 1995, Volume: 18, Issue:2

    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.
    American journal of human genetics, 1997, Volume: 61, Issue:5

    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