Page last updated: 2024-08-21

ethylmalonic acid and Syndrome

ethylmalonic acid has been researched along with Syndrome in 4 studies

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (25.00)18.2507
2000's3 (75.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Bok, LA; Corydon, MJ; Duran, M; Gregersen, N; Vreken, P; Wanders, RJ; Waterham, HR; Wijburg, FA1
Barshop, BA; Haas, RH; McGowan, KA; Naviaux, RK; Nyhan, WL; Townsend, JJ; Yu, A1
Bennett, MJ; Bertini, E; Burlina, AB; Dionisi-Vici, C; Gibson, KM; Hale, DE; Sabetta, G; Schmidt-Sommerfeld, E; Servidei, S; Zacchello, F1
Ahn, YM; Eun, BL; Hahn, SH; Jang, SH; Lee, EH; Rinaldo, P; Ryu, KH; Shin, YJ; Yamaguchi, S; Yoon, HR1

Trials

1 trial(s) available for ethylmalonic acid and Syndrome

ArticleYear
Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: response to riboflavin.
    Journal of inherited metabolic disease, 2001, Volume: 24, Issue:8

    Topics: Brain Diseases, Metabolic, Inborn; Child, Preschool; Coenzymes; Cognition; Diarrhea; Electron Transport; Female; Humans; Infant; Korea; Malonates; Motor Skills; Riboflavin; Syndrome; Ubiquinone

2001

Other Studies

3 other study(ies) available for ethylmalonic acid and Syndrome

ArticleYear
Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder.
    Pediatrics, 2003, Volume: 112, Issue:5

    Topics: Amino Acid Substitution; Anemia, Hemolytic; Butyryl-CoA Dehydrogenase; Carnitine; Consanguinity; DNA Mutational Analysis; Female; Humans; Infant, Newborn; Infant, Premature; Liver Diseases; Male; Malonates; Mutation, Missense; Pedigree; Point Mutation; Polymorphism, Genetic; Pregnancy; Pregnancy Complications; Syndrome; Thrombocytopenia

2003
The role of methionine in ethylmalonic encephalopathy with petechiae.
    Archives of neurology, 2004, Volume: 61, Issue:4

    Topics: Amino Acids; Brain; Brain Diseases, Metabolic, Inborn; Caudate Nucleus; Fatal Outcome; Female; Follow-Up Studies; Humans; Infant; Isoleucine; Male; Malonates; Methionine; Pedigree; Purpura; Substantia Nigra; Syndrome

2004
A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts.
    The Journal of pediatrics, 1994, Volume: 124, Issue:1

    Topics: Acyl-CoA Dehydrogenase; Brain; Chronic Disease; Cyanosis; Diarrhea; Fatty Acid Desaturases; Fatty Acids; Fibroblasts; Humans; Infant; Intellectual Disability; Isoleucine; Male; Malonates; Oxidation-Reduction; Paralysis; Purpura; Syndrome

1994