Page last updated: 2024-08-26

3-methylglutaconic acid and Barth Syndrome

3-methylglutaconic acid has been researched along with Barth Syndrome in 4 studies

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's3 (75.00)24.3611
2020's1 (25.00)2.80

Authors

AuthorsStudies
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
Greenwood, J; Hakim, S; Platt, J; Ronvelia, D; Zaragoza, MV1
Anikster, Y; Barth, PG; Duran, M; Morava, E; Sperl, W; Wevers, RA; Wortmann, SB; Zschocke, J1

Reviews

1 review(s) available for 3-methylglutaconic acid and Barth Syndrome

ArticleYear
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.
    Journal of inherited metabolic disease, 2013, Volume: 36, Issue:6

    Topics: Abnormalities, Multiple; Barth Syndrome; Cardiomyopathy, Dilated; Cerebellar Ataxia; Chorea; Diagnosis, Differential; Glutarates; Humans; Metabolism, Inborn Errors; Optic Atrophy; Spastic Paraplegia, Hereditary; Terminology as Topic

2013

Other Studies

3 other study(ies) available for 3-methylglutaconic acid and Barth Syndrome

ArticleYear
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
Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle.
    Molecular genetics and metabolism, 2012, Volume: 107, Issue:3

    Topics: Acyltransferases; Barth Syndrome; Cardiolipins; Cardiomyopathy, Dilated; Codon, Nonsense; Exons; Genetic Heterogeneity; Glutarates; Heart Defects, Congenital; Heart Failure; Humans; Infant; Male; Middle Aged; Myocardium; Neutropenia; Pedigree; Transcription Factors

2012