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3-methylglutaconic acid and Deficiency, Mental

3-methylglutaconic acid has been researched along with Deficiency, Mental in 5 studies

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19901 (20.00)18.7374
1990's1 (20.00)18.2507
2000's2 (40.00)29.6817
2010's1 (20.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
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, F1
Buckel, W; Carpenter, K; Ensenauer, R; Gibson, KM; Hoffmann, GF; Liesert, M; Ly, TB; Mack, M; Peters, V; Wilcken, B; Zschocke, J1
Elhasid, R; Gershoni-Baruch, R; Haimi, M; Izraeli, S; Mandel, H; Wanders, RJ1
Berger, R; de Koning, Tj; Dorland, L; Duran, M; Poll-The, BT1
Lehnert, W; Scharf, J; Wendel, U1

Other Studies

5 other study(ies) available for 3-methylglutaconic acid and Deficiency, Mental

ArticleYear
Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria.
    Clinical genetics, 2011, Volume: 80, Issue:3

    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.
    Human mutation, 2003, Volume: 21, Issue:4

    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.
    Journal of pediatric hematology/oncology, 2006, Volume: 28, Issue:2

    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.
    Lancet (London, England), 1996, Sep-28, Volume: 348, Issue:9031

    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.
    European journal of pediatrics, 1985, Volume: 143, Issue:4

    Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Female; Fibroblasts; Glutarates; Humans; Hydro-Lyases; Infant; Intellectual Disability; Meglutol; Muscle Hypotonia; Skin

1985