Page last updated: 2024-08-21

ethylmalonic acid and Acquired Metabolic Diseases, Brain

ethylmalonic acid has been researched along with Acquired Metabolic Diseases, Brain in 3 studies

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's3 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Fu, X; Hahn, SH; Kodama, H; Packman, S; Rinaldo, P1
Abu-Libdeh, B; Briem, E; Burlina, A; Christensen, E; Cindro-Heberle, L; De Gioia, L; Dickson, P; Forlani, F; Jack, RM; Lamantea, E; Mineri, R; Owaidha, M; Papaleo, E; Rinaldo, P; Tiranti, V; Zeviani, M1
Al Tawari, AA; Heberle, LC; Ibrahim, JK; Ramadan, DG1

Other Studies

3 other study(ies) available for ethylmalonic acid and Acquired Metabolic Diseases, Brain

ArticleYear
Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes.
    Journal of inherited metabolic disease, 2003, Volume: 26, Issue:1

    Topics: Blotting, Northern; Brain Diseases, Metabolic; Cation Transport Proteins; Cells, Cultured; Child; Copper; Copper Transporter 1; DNA Mutational Analysis; DNA, Complementary; Fatty Acids; Female; Fibroblasts; Humans; Intellectual Disability; Lipid Metabolism, Inborn Errors; Lymphocytes; Male; Malonates; Mitochondrial Encephalomyopathies; Molecular Chaperones; Oxidation-Reduction; Phenotype

2003
ETHE1 mutations are specific to ethylmalonic encephalopathy.
    Journal of medical genetics, 2006, Volume: 43, Issue:4

    Topics: Alleles; Blotting, Western; Brain Diseases, Metabolic; Butyryl-CoA Dehydrogenase; DNA Mutational Analysis; Electrophoresis, Gel, Two-Dimensional; Humans; Malonates; Mitochondrial Proteins; Models, Molecular; Mutation; Nucleocytoplasmic Transport Proteins; Phylogeny; Polymorphism, Single Nucleotide

2006
Ethylmalonic encephalopathy-report of two cases.
    Brain & development, 2006, Volume: 28, Issue:5

    Topics: Brain; Brain Diseases, Metabolic; DNA Mutational Analysis; Humans; Infant; Magnetic Resonance Imaging; Male; Malonates; Mitochondrial Proteins; Nucleocytoplasmic Transport Proteins

2006