Page last updated: 2024-08-26

3-methylglutaconic acid and Muscular Diseases

3-methylglutaconic acid has been researched along with Muscular Diseases in 6 studies

Research

Studies (6)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (16.67)18.2507
2000's4 (66.67)29.6817
2010's1 (16.67)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Antonetti, G; Boenzi, S; Carrozzo, R; Catesini, G; Diodato, D; Dionisi-Vici, C; Martinelli, D; Olivieri, G; Rizzo, C; Sacchetti, E; Semeraro, M1
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
Kelley, RI; Mazzocco, MM1
Iinuma, K; Kitoh, T; Ohura, T; Ohya, N; Sakamoto, O1
Cheatham, JP; Clark, BJ; Kelley, RI; Nigro, MA; Powell, BR; Sherwood, GW; Sladky, JT; Swisher, WP1

Other Studies

6 other study(ies) available for 3-methylglutaconic acid and Muscular Diseases

ArticleYear
The urinary organic acids profile in single large-scale mitochondrial DNA deletion disorders.
    Clinica chimica acta; international journal of clinical chemistry, 2018, Volume: 481

    Topics: 3-Hydroxybutyric Acid; Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Child; Child, Preschool; Congenital Bone Marrow Failure Syndromes; DNA, Mitochondrial; Fumarates; Glutarates; Humans; Hydroxybutyrates; Infant; Kearns-Sayre Syndrome; Lactic Acid; Lipid Metabolism, Inborn Errors; Mitochondrial Diseases; Muscular Diseases; Pyruvic Acid; Retrospective Studies; Valerates

2018
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
Preliminary evidence for a cognitive phenotype in Barth syndrome.
    American journal of medical genetics, 2001, Sep-01, Volume: 102, Issue:4

    Topics: Child; Child, Preschool; Cognition Disorders; Female; Genetics, Behavioral; Glutarates; Growth Disorders; Humans; Intelligence Tests; Male; Muscle, Skeletal; Muscular Diseases; Myocardium; Neutropenia; Phenotype; Syndrome

2001
Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.
    Journal of human genetics, 2002, Volume: 47, Issue:5

    Topics: Acyltransferases; Cardiomyopathy, Dilated; DNA Mutational Analysis; DNA Primers; DNA-Binding Proteins; Glutarates; Humans; Infant; Japan; Male; Muscular Diseases; Mutation; Mutation, Missense; Neutropenia; Polymerase Chain Reaction; Proteins; Syndrome; Transcription Factors; X Chromosome

2002
X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria.
    The Journal of pediatrics, 1991, Volume: 119, Issue:5

    Topics: Adult; Cardiomyopathy, Dilated; Child; Child, Preschool; Chromatography, High Pressure Liquid; Fumarates; Glutarates; Growth Disorders; Heart Failure; Humans; Male; Meglutol; Muscular Diseases; Neutropenia; Pedigree; Syndrome; X Chromosome

1991