Page last updated: 2024-08-21

ethylmalonic acid and Genetic Predisposition

ethylmalonic acid has been researched along with Genetic Predisposition in 3 studies

Research

Studies (3)

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

Authors

AuthorsStudies
Duran, M; van Maldegem, BT; Wanders, RJ; Waterham, HR; Wijburg, FA1
Barth, M; Boddaert, N; Brivet, M; Chrétien, D; de Keyzer, Y; de Lonlay, P; Duran, M; Gobin, S; Hubert, L; Munnich, A; Ottolenghi, C; Rabier, D; Ricquier, D; Romano, S; Sefiani, A; Serre, V; Valayannopoulos, V; Vassault, A1
Ang, D; Bolund, L; Bross, P; Corydon, TJ; Eiberg, H; Georgopoulos, C; Gregersen, N; Hansen, J; Hansen, JJ; Kølvraa, S; Li, Z; Lundemose, JB; Nielsen, MN; Niezen-Koning, K; Yang, H1

Trials

1 trial(s) available for ethylmalonic acid and Genetic Predisposition

ArticleYear
Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency.
    Pediatric research, 2010, Volume: 67, Issue:3

    Topics: Adolescent; Biomarkers; Butyryl-CoA Dehydrogenase; Carnitine; Child; Child, Preschool; Female; Flavin-Adenine Dinucleotide; Genetic Predisposition to Disease; Humans; Infant; Lipid Metabolism, Inborn Errors; Male; Malonates; Mutation; Phenotype; Prospective Studies; Riboflavin; Treatment Outcome; Vitamin B Complex

2010

Other Studies

2 other study(ies) available for ethylmalonic acid and Genetic Predisposition

ArticleYear
Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.
    Journal of inherited metabolic disease, 2010, Volume: 33 Suppl 3

    Topics: Amino Acids; Biomarkers; Brain Diseases, Metabolic, Inborn; Diet, Protein-Restricted; Dietary Supplements; Genetic Predisposition to Disease; Homozygote; Humans; Infant; Male; Malonates; Mitochondrial Proteins; Mutation; Nucleocytoplasmic Transport Proteins; Phenotype; Principal Component Analysis; Purpura; Treatment Outcome

2010
Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential.
    Journal of human genetics, 2007, Volume: 52, Issue:1

    Topics: Butyryl-CoA Dehydrogenase; Chaperonin 10; Chaperonin 60; Child; Child, Preschool; Genetic Predisposition to Disease; Humans; Infant; Infant, Newborn; Malonates; Mitochondrial Proteins; Polymorphism, Single Nucleotide; Promoter Regions, Genetic; Sudden Infant Death

2007