Title : Deficiency of porphobilinogen synthase associated with acute crisis. Diagnosis of the first two cases in Chile by laboratory methods.

Pub. Date : 1991 May

PMID : 1892953






1 Functional Relationships(s)
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Protein Name
Organism
1 Erythrocyte porphobilinogen synthase deficiency was confirmed by the determination of its activity in blood and also by the high levels of both porphyrins and 5-aminolaevulinic acid in the urine of two siblings. Porphyrins aminolevulinate dehydratase Homo sapiens