3-methylglutaconic acid has been researched along with Neutropenia in 13 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 5 (38.46) | 18.2507 |
| 2000's | 7 (53.85) | 29.6817 |
| 2010's | 1 (7.69) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Greenwood, J; Hakim, S; Platt, J; Ronvelia, D; Zaragoza, MV | 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 |
| Henry, AE; Kelly, RI; Mazzocco, MM | 1 |
| Blazek, G; Finsterer, J; Stollberger, C | 1 |
| Cox, GF; Feigenbaum, A; Funanage, VL; Iyer, GS; Johnston, J; Kelley, RI; Proujansky, R | 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 |
| Iinuma, K; Kitoh, T; Ohura, T; Ohya, N; Sakamoto, O | 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 Neutropenia
| 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 |
12 other study(ies) available for 3-methylglutaconic acid and Neutropenia
| Article | Year |
|---|---|
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.
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 |
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 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 |
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 |
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 |
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 |
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 |
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 |