Title : MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathy.

Pub. Date : 2019 Dec

PMID : 31538237






2 Functional Relationships(s)
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Sentence
Compound Name
Protein Name
Organism
1 The homozygous missense variant in the NAD+-binding domain of MDH1 led to severely diminished MDH protein expression. NAD malate dehydrogenase 1 Homo sapiens
2 The homozygous missense variant in the NAD+-binding domain of MDH1 led to severely diminished MDH protein expression. NAD malate dehydrogenase 1 Homo sapiens