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Ethylmalonic encephalopathy

clinical heterogeneity exists; early-onset encephalopathy, developmental delay and regression, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea, microangiopathy, and ethylmalonic acid in urine; see ETHE1 protein, human (C483228)
Also Known As:
Encephalopathy, ethylmalonic; Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria
Networked: 17 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Experts

1. Tiranti, Valeria: 5 articles (01/2015 - 12/2006)
2. Zeviani, Massimo: 4 articles (12/2015 - 02/2009)
3. Di Meo, Ivano: 3 articles (01/2015 - 02/2009)
4. Papoff, Paola: 2 articles (12/2015 - 05/2012)
5. Giordano, Carla: 2 articles (12/2015 - 05/2012)
6. Leuzzi, Vincenzo: 2 articles (12/2015 - 05/2012)
7. Spalice, Alberto: 2 articles (12/2015 - 05/2012)
8. Viscomi, Carlo: 2 articles (05/2012 - 02/2009)
9. Garone, Giacomo: 1 article (12/2015)
10. Schettini, Livia: 1 article (12/2015)

Related Diseases

1. Purpura
2. Diarrhea
3. Metabolic Diseases (Metabolic Disease)
4. Mitochondrial Diseases (Mitochondrial Disease)
5. Starvation

Related Drugs and Biologics

1. Electron Transport Complex IV (Cytochrome c Oxidase)
2. ethylmalonic acid (ethylmalonate)
3. sulfur dioxygenase
4. Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)
5. Biological Markers (Surrogate Marker)
6. Sulfur
7. Nitric Oxide (Nitrogen Monoxide)
8. Methionine (L-Methionine)
9. Carbon Monoxide
10. methylsuccinic acid