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Details on Person MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathy
| Class:Id | LiteratureReference:9857025 |
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| _displayName | MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathy |
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| _timestamp | 2023-12-30 09:52:14 |
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| author | [Person:9857028] Broeks, Melissa H
[Person:9857021] Shamseldin, Hanan E
[Person:9841203] Alhashem, Amal
[Person:4839797] Hashem, Mais
[Person:9857016] Abdulwahab, Firdous
[Person:9857018] Alshedi, Tarfa
[Person:9857029] Alobaid, Iman
[Person:9857020] Zwartkruis, Fried
[Person:9857017] Westland, Denise
[Person:9857015] Fuchs, Sabine
[Person:9815343] Verhoeven-Duif, Nanda M
[Person:9857022] Jans, Judith J M
[Person:4839835] Alkuraya, Fowzan S |
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| created | [InstanceEdit:9857024] Stephan, Ralf, 2023-12-30 |
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| journal | Hum Genet |
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| pages | 1247-1257 |
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| pubMedIdentifier | 31538237 |
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| title | MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathy |
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| volume | 138 |
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| year | 2019 |
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| (literatureReference) | [Reaction:198508] MDH1 oxidizes MAL to OA [Homo sapiens]
[Reaction:9856871] MDH1 reduces OA [Homo sapiens] |
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