3-methylglutaconic acid has been researched along with Deficiency, Mental in 5 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 1 (20.00) | 18.7374 |
1990's | 1 (20.00) | 18.2507 |
2000's | 2 (40.00) | 29.6817 |
2010's | 1 (20.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Arranz, JA; Briones, P; Buján, N; Del Toro, M; Fernàndez-Burriel, M; Font, A; Lissens, W; López-Gallardo, E; Montoya, J; Navarro-Sastre, A; Ribes, A; Riudor, E; Tort, F | 1 |
Buckel, W; Carpenter, K; Ensenauer, R; Gibson, KM; Hoffmann, GF; Liesert, M; Ly, TB; Mack, M; Peters, V; Wilcken, B; Zschocke, J | 1 |
Elhasid, R; Gershoni-Baruch, R; Haimi, M; Izraeli, S; Mandel, H; Wanders, RJ | 1 |
Berger, R; de Koning, Tj; Dorland, L; Duran, M; Poll-The, BT | 1 |
Lehnert, W; Scharf, J; Wendel, U | 1 |
5 other study(ies) available for 3-methylglutaconic acid and Deficiency, Mental
Article | Year |
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Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria.
Topics: Acidosis; ATP Synthetase Complexes; ATPase Inhibitory Protein; Cardiomegaly; Child; Consanguinity; DNA Mutational Analysis; Female; Fetal Growth Retardation; Glutarates; H(+)-K(+)-Exchanging ATPase; Heterozygote; Humans; Intellectual Disability; Male; Membrane Proteins; Mitochondrial Proteins; Proteins; Sequence Deletion | 2011 |
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I.
Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Child, Preschool; Exons; Genes, Recessive; Glutarates; Humans; Hydro-Lyases; Infant, Newborn; Intellectual Disability; Language Development Disorders; Male; Mutation; Neonatal Screening | 2003 |
Myeloid dysplasia in familial 3-methylglutaconic aciduria.
Topics: Child, Preschool; Chromosomes, Human, Pair 7; Consanguinity; Ethnicity; Female; Glutarates; Humans; Infant; Intellectual Disability; Israel; Leukemia, Myeloid, Acute; Male; Metabolism, Inborn Errors; Monosomy; Myelodysplastic Syndromes; Pedigree; Thrombocytopenia | 2006 |
Maternal 3-methylglutaconic aciduria associated with abnormalities in offspring.
Topics: Female; Glutarates; Humans; Infant, Newborn; Intellectual Disability; Male; Microcephaly; Pregnancy; Pregnancy Complications; Psychomotor Disorders | 1996 |
3-Methylglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl-CoA hydratase deficiency.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Female; Fibroblasts; Glutarates; Humans; Hydro-Lyases; Infant; Intellectual Disability; Meglutol; Muscle Hypotonia; Skin | 1985 |