Page last updated: 2024-08-26

3-methylglutaconic acid and Cardiomyopathy, Dilated

3-methylglutaconic acid has been researched along with Cardiomyopathy, Dilated in 12 studies

Research

Studies (12)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's5 (41.67)18.2507
2000's5 (41.67)29.6817
2010's2 (16.67)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
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
Burlina, AB; Catuogno, S; Pellegrino, P; Prioli, MD; Rugolotto, S; Toniolo, D1
Henry, AE; Kelly, RI; Mazzocco, MM1
Boulton, ME; Brownstein, DG; Davies, JR; Davies, VJ; Hogan, V; Hollins, AJ; Moat, SJ; Nichols, PP; Piechota, M; Powell, KA; Votruba, M; White, KE; Wride, MA; Yip, W1
Blazek, G; Finsterer, J; Stollberger, C1
Brown, G; Johnson, A; Land, JM; Ostman-Smith, I1
Kleinle, S; Krähenbühl, S; Liechti-Gallati, S; Ruesch, S; Schaffner, T; Weber, J; Wermuth, B; Wiesmann, UN1
Barth, PG; Vreken, P; Wanders, RJ1
Allen, JT; Cantlay, AM; Lunt, PW; Newbury-Ecob, RA; Shokrollahi, K; Steward, CG1
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

Reviews

2 review(s) available for 3-methylglutaconic acid and Cardiomyopathy, Dilated

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
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)-MIM 302060.
    The Journal of pediatrics, 1999, Volume: 135, Issue:3

    Topics: Cardiomyopathy, Dilated; Child; Genetic Linkage; Glutarates; Growth Disorders; Humans; Male; Mitochondrial Myopathies; Mutation; Neutropenia; Syndrome; X Chromosome

1999

Other Studies

10 other study(ies) available for 3-methylglutaconic acid and Cardiomyopathy, Dilated

ArticleYear
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
Long-term treatment of Barth syndrome with pantothenic acid: a retrospective study.
    Molecular genetics and metabolism, 2003, Volume: 80, Issue:4

    Topics: Acyltransferases; Adolescent; Cardiomyopathy, Dilated; Child; Child, Preschool; Follow-Up Studies; Glutarates; Granulocyte Colony-Stimulating Factor; Heart Transplantation; Humans; Infant; Male; Mutation; Neutropenia; Pantothenic Acid; Proteins; Retrospective Studies; Syndrome; Transcription Factors; Treatment Failure

2003
Barth syndrome is associated with a cognitive phenotype.
    Journal of developmental and behavioral pediatrics : JDBP, 2007, Volume: 28, Issue:1

    Topics: Cardiomyopathy, Dilated; Child; Child, Preschool; Cholesterol; Cognition Disorders; Genotype; Glutarates; Growth Disorders; Humans; Male; Musculoskeletal Diseases; Neuropsychological Tests; Neutropenia; Phenotype; Severity of Illness Index; Syndrome

2007
A missense mutation in the murine Opa3 gene models human Costeff syndrome.
    Brain : a journal of neurology, 2008, Volume: 131, Issue:Pt 2

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Animals; Base Sequence; Brain; Cardiomyopathy, Dilated; Disease Models, Animal; Glutarates; Humans; Mice; Mice, Inbred C3H; Molecular Sequence Data; Mutation, Missense; Optic Atrophy, Autosomal Dominant; Optic Nerve; Phenotype; Point Mutation; Proteins; Retinal Ganglion Cells; Reverse Transcriptase Polymerase Chain Reaction; Spinal Cord; Syndrome; Transcription, Genetic; Visual Acuity

2008
Prevalence of Barth syndrome in adult left ventricular hypertrabeculation / noncompaction.
    Scandinavian cardiovascular journal : SCJ, 2008, Volume: 42, Issue:2

    Topics: Adult; Cardiomyopathy, Dilated; Comorbidity; Female; Genetic Diseases, X-Linked; Glutarates; Heart Ventricles; Humans; Leukocyte Count; Male; Neuromuscular Diseases; Neutropenia; Retrospective Studies; Syndrome

2008
Dilated cardiomyopathy due to type II X-linked 3-methylglutaconic aciduria: successful treatment with pantothenic acid.
    British heart journal, 1994, Volume: 72, Issue:4

    Topics: Amino Acid Metabolism, Inborn Errors; Cardiomyopathy, Dilated; Electrocardiography; Genetic Linkage; Glutarates; Humans; Infant, Newborn; Male; Pantothenic Acid; X Chromosome

1994
Combined 3-methylglutaconic and 3-hydroxy-3-methylglutaric aciduria with endocardial fibroelastosis and dilatative cardiomyopathy in male and female siblings with partial deficiency of complex II/III in fibroblasts.
    Enzyme & protein, 1996, Volume: 49, Issue:5-6

    Topics: Cardiomyopathy, Dilated; DNA, Mitochondrial; Electron Transport Complex II; Electron Transport Complex III; Endocardium; Female; Fibroblasts; Glutarates; Humans; Infant; Liver; Male; Meglutol; Mitochondria, Heart; Multienzyme Complexes; Muscle Hypotonia; Myocardium; Oxidoreductases; Point Mutation; Succinate Dehydrogenase

1996
Genetic analysis of the G4.5 gene in families with suspected Barth syndrome.
    The Journal of pediatrics, 1999, Volume: 135, Issue:3

    Topics: Cardiomyopathy, Dilated; DNA Mutational Analysis; Failure to Thrive; Genetic Linkage; Glutarates; Humans; Infant; Infant, Newborn; Male; Mitochondrial Myopathies; Mutagenesis, Insertional; Mutation, Missense; Neutropenia; Pedigree; Syndrome; X Chromosome

1999
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