3-methylglutaconic acid has been researched along with Symptom Cluster in 24 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 11 (45.83) | 18.2507 |
2000's | 12 (50.00) | 29.6817 |
2010's | 1 (4.17) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Morava, E; Wortmann, SB | 1 |
Bateman, C | 1 |
Burlina, AB; Catuogno, S; Pellegrino, P; Prioli, MD; Rugolotto, S; Toniolo, D | 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 |
Baric, I; Bennetts, B; Carpenter, K; Christodoulou, J; Kelley, R; Kirk, EP; Neas, K; White, R; Wilson, M | 1 |
de Koning, T; Engelke, U; Huizing, M; Kluijtmans, LA; Loupatty, FJ; Morava, E; Rodenburg, RJ; Smeitink, JA; Wevers, R; Wortmann, S | 1 |
Henry, AE; Kelly, RI; Mazzocco, MM | 1 |
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, W | 1 |
Blazek, G; Finsterer, J; Stollberger, C | 1 |
Costeff, H; Elpeleg, ON; Gibson, KM; Joseph, A; Shental, Y; Weitz, R | 1 |
Lerman-Sagie, T | 1 |
Kelley, RI; Kratz, L | 1 |
Apter, N; Costeff, H; Divry, P; Elpeleg, O; Gadoth, N | 1 |
Cox, GF; Feigenbaum, A; Funanage, VL; Iyer, GS; Johnston, J; Kelley, RI; Proujansky, R | 1 |
Cardonick, EH; Ganz, E; Kuhlman, K; Pagotto, LT | 1 |
Barth, PG; Vreken, P; Wanders, RJ | 1 |
Allen, JT; Cantlay, AM; Lunt, PW; Newbury-Ecob, RA; Shokrollahi, K; Steward, CG | 1 |
Kelley, RI; Mazzocco, MM | 1 |
Anikster, Y; Elpeleg, O; Gahl, WA; Kleta, R; Shaag, A | 1 |
Iinuma, K; Kitoh, T; Ohura, T; Ohya, N; Sakamoto, O | 1 |
Ben-Ezra, D; Elpeleg, ON; Raz, J; Sheffer, RN; Zlotogora, J | 1 |
Bennett, MJ; Gibson, KM; Jakobs, C; Lichter-Konecki, U; Mize, CE; Munnich, A; Rotig, A; Trefz, FK | 1 |
Cheatham, JP; Clark, BJ; Kelley, RI; Nigro, MA; Powell, BR; Sherwood, GW; Sladky, JT; Swisher, WP | 1 |
1 review(s) available for 3-methylglutaconic acid and Symptom Cluster
Article | Year |
---|---|
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)-MIM 302060.
Topics: Cardiomyopathy, Dilated; Child; Genetic Linkage; Glutarates; Growth Disorders; Humans; Male; Mitochondrial Myopathies; Mutation; Neutropenia; Syndrome; X Chromosome | 1999 |
23 other study(ies) available for 3-methylglutaconic acid and Symptom Cluster
Article | Year |
---|---|
3-methylglutaconic aciduria type IV: a syndrome with an evolving phenotype.
Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Glutarates; Humans; Phenotype; Syndrome | 2011 |
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 |
Long-term treatment of Barth syndrome with pantothenic acid: a retrospective study.
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 |
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 |
OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria.
Topics: 5' Untranslated Regions; Adolescent; Alleles; Amino Acid Metabolism, Inborn Errors; Base Sequence; Child; Child, Preschool; Cohort Studies; Developmental Disabilities; DNA Mutational Analysis; Genetic Variation; Glutarates; Heterozygote; Homozygote; Humans; Infant, Newborn; Middle Aged; Molecular Sequence Data; Mutation; Phenotype; Proteins; Reverse Transcriptase Polymerase Chain Reaction; Syndrome | 2005 |
Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation.
Topics: Adolescent; Brain Diseases, Metabolic; Child; Child, Preschool; Consanguinity; Fatal Outcome; Female; Glutarates; Hearing Loss, Sensorineural; Humans; Infant, Newborn; Leigh Disease; Male; Mitochondrial Diseases; Oxidative Phosphorylation; Syndrome; Valerates | 2006 |
Barth syndrome is associated with a cognitive phenotype.
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.
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.
Topics: Adult; Cardiomyopathy, Dilated; Comorbidity; Female; Genetic Diseases, X-Linked; Glutarates; Heart Ventricles; Humans; Leukocyte Count; Male; Neuromuscular Diseases; Neutropenia; Retrospective Studies; Syndrome | 2008 |
3-Methylglutaconic aciduria in the Iraqi-Jewish 'optic atrophy plus' (Costeff) syndrome.
Topics: Adolescent; Adult; Child; Child, Preschool; Cognition Disorders; Female; Glutarates; Humans; Iraq; Jews; Male; Meglutol; Movement Disorders; Optic Atrophy; Syndrome | 1994 |
Behr syndrome.
Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic; Child; Glutarates; Humans; Meglutol; Optic Atrophy; Syndrome | 1995 |
3-methylglutaconic acidemia in Smith-Lemli-Opitz syndrome.
Topics: Adolescent; Child; Cholesterol; Dehydrocholesterols; Glutarates; Humans; Lipid Metabolism, Inborn Errors; Syndrome | 1995 |
3-Methylglutaconic aciduria in "optic atrophy plus".
Topics: Adolescent; Adult; Ataxia; Child; Female; Glutarates; Humans; Male; Optic Atrophy; Paraplegia; Syndrome | 1993 |
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 |
Prenatal clinical expression of 3-methylglutaconic aciduria: Barth syndrome.
Topics: Adult; Female; Fetal Heart; Follow-Up Studies; Glutarates; Humans; Male; Pregnancy; Pregnancy Complications, Cardiovascular; Pregnancy Outcome; Syndrome; Ultrasonography, Prenatal; Ventricular Dysfunction, Left | 1997 |
Genetic analysis of the G4.5 gene in families with suspected Barth syndrome.
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 |
Preliminary evidence for a cognitive phenotype in Barth syndrome.
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 |
Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.
Topics: Amino Acid Sequence; Base Sequence; Cloning, Molecular; Conserved Sequence; DNA Mutational Analysis; Exons; Female; Founder Effect; Gene Expression Profiling; Genetic Testing; Glutarates; Humans; Introns; Iraq; Jews; Male; Molecular Sequence Data; Open Reading Frames; Optic Atrophies, Hereditary; Point Mutation; Proteins; RNA, Messenger; Syndrome | 2001 |
Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.
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 |
Behr's syndrome and 3-methylglutaconic aciduria.
Topics: Child; Child, Preschool; Female; Glutarates; Humans; Infant; Jews; Male; Meglutol; Nervous System Diseases; Nystagmus, Pathologic; Optic Atrophies, Hereditary; Syndrome; Visual Acuity | 1992 |
3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects.
Topics: Acidosis, Lactic; Anemia, Aplastic; Biomarkers; Child, Preschool; DNA, Mitochondrial; Electron Transport; Female; Gene Deletion; Glutarates; Humans; Hydro-Lyases; Infant; Male; Mitochondria; Neutropenia; Syndrome; Thrombocytopenia | 1992 |
X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria.
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 |