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- Ethylmalonic_encephalopathy abstract "Ethylmalonic encephalopathy (EE) is a rare autosomal recessive inborn error of metabolism. Patients affected with EE are typically identified shortly after birth, with symptoms including diarrhea, petechiae and seizures. The genetic defect in EE is thought to involve an impairment in the degradation of sulfide intermediates in the body. Hydrogen sulfide then builds up to toxic levels. EE was initially described in 1994. Most cases of EE have been described in individuals of Mediterranean or Arabic origin.".
- Ethylmalonic_encephalopathy omim "602473".
- Ethylmalonic_encephalopathy thumbnail Autorecessive.svg?width=300.
- Ethylmalonic_encephalopathy wikiPageID "6531177".
- Ethylmalonic_encephalopathy wikiPageRevisionID "591235551".
- Ethylmalonic_encephalopathy hasPhotoCollection Ethylmalonic_encephalopathy.
- Ethylmalonic_encephalopathy name "Ethylmalonic encephalopathy".
- Ethylmalonic_encephalopathy omim "602473".
- Ethylmalonic_encephalopathy subject Category:Autosomal_recessive_disorders.
- Ethylmalonic_encephalopathy subject Category:Brain_disorders.
- Ethylmalonic_encephalopathy type Abstraction100002137.
- Ethylmalonic_encephalopathy type Attribute100024264.
- Ethylmalonic_encephalopathy type AutosomalRecessiveDisorders.
- Ethylmalonic_encephalopathy type BrainDisorder114085708.
- Ethylmalonic_encephalopathy type BrainDisorders.
- Ethylmalonic_encephalopathy type Condition113920835.
- Ethylmalonic_encephalopathy type Disease114070360.
- Ethylmalonic_encephalopathy type Disorder114052403.
- Ethylmalonic_encephalopathy type IllHealth114052046.
- Ethylmalonic_encephalopathy type Illness114061805.
- Ethylmalonic_encephalopathy type NervousDisorder114084880.
- Ethylmalonic_encephalopathy type PathologicalState114051917.
- Ethylmalonic_encephalopathy type PhysicalCondition114034177.
- Ethylmalonic_encephalopathy type State100024720.
- Ethylmalonic_encephalopathy type Disease.
- Ethylmalonic_encephalopathy type AilmentCondition.
- Ethylmalonic_encephalopathy type Situation.
- Ethylmalonic_encephalopathy comment "Ethylmalonic encephalopathy (EE) is a rare autosomal recessive inborn error of metabolism. Patients affected with EE are typically identified shortly after birth, with symptoms including diarrhea, petechiae and seizures. The genetic defect in EE is thought to involve an impairment in the degradation of sulfide intermediates in the body. Hydrogen sulfide then builds up to toxic levels. EE was initially described in 1994.".
- Ethylmalonic_encephalopathy label "Ethylmalonic encephalopathy".
- Ethylmalonic_encephalopathy sameAs m.0g943j.
- Ethylmalonic_encephalopathy sameAs Q17119115.
- Ethylmalonic_encephalopathy sameAs Q17119115.
- Ethylmalonic_encephalopathy sameAs 383.
- Ethylmalonic_encephalopathy sameAs Ethylmalonic_encephalopathy.
- Ethylmalonic_encephalopathy wasDerivedFrom Ethylmalonic_encephalopathy?oldid=591235551.
- Ethylmalonic_encephalopathy depiction Autorecessive.svg.
- Ethylmalonic_encephalopathy isPrimaryTopicOf Ethylmalonic_encephalopathy.
- Ethylmalonic_encephalopathy name "Ethylmalonic encephalopathy".