Compounds > beta-hydroxyisovaleric acid
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beta-hydroxyisovaleric acid and Electron Transport Chain Deficiencies, Mitochondrial

beta-hydroxyisovaleric acid has been researched along with Electron Transport Chain Deficiencies, Mitochondrial in 3 studies

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (66.67)29.6817
2010's1 (33.33)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Afroze, B; Ali, ZZ; Fatimah, M; Jafri, L; Jamil, A; Khan, AH; Majid, H; Yusufzai, N1
Almashanu, S; Baumgartner, ER; Baumgartner, MR; Dantas, MF; Fowler, B; Friebel, D; Gebhardt, B; Giunta, C; Hoffmann, GF; Suormala, T; Valle, D1
de Koning, T; Engelke, U; Huizing, M; Kluijtmans, LA; Loupatty, FJ; Morava, E; Rodenburg, RJ; Smeitink, JA; Wevers, R; Wortmann, S1

Other Studies

3 other study(ies) available for beta-hydroxyisovaleric acid and Electron Transport Chain Deficiencies, Mitochondrial

ArticleYear
Diagnostic dilemma of patients with methylmalonic aciduria: Experience from a tertiary care centre in Pakistan.
    JPMA. The Journal of the Pakistan Medical Association, 2018, Volume: 68, Issue:4

    Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Citrates; Cross-Sectional Studies; Female; Glycine; Humans; Infant; Lactic Acid; Male; Methionine; Mitochondrial Diseases; Pakistan; Tertiary Care Centers; Urinalysis; Valerates; Vitamin B 12 Deficiency

2018
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.
    American journal of human genetics, 2004, Volume: 75, Issue:5

    Topics: Alleles; Base Sequence; Biotin; Carbon-Carbon Ligases; DNA Mutational Analysis; Dose-Response Relationship, Drug; Fibroblasts; Gene Expression; Genetic Vectors; Germany; Glycine; Greece; Humans; Infant, Newborn; Male; Mitochondrial Diseases; Molecular Sequence Data; Mutation; Reverse Transcriptase Polymerase Chain Reaction; Sequence Analysis, DNA; Transfection; Valerates

2004
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.
    Molecular genetics and metabolism, 2006, Volume: 88, Issue:1

    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