Title : Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.

Pub. Date : 2017 Mar

PMID : 28133863






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 The patient with the homozygous PNPO variant had a low cerebrospinal fluid pyridoxal-5-phosphate level. Pyridoxal Phosphate pyridoxamine 5'-phosphate oxidase Homo sapiens