Article
Hereditary defect in biosynthesis of aldosterone: aldosterone synthase deficiency 1964-1997.
The Journal of clinical endocrinology and metabolism - 1 Nov 1997
Peter M, Fawaz L, Drop S L, Visser H K, Sippell W G
Abstract excerpt
We studied two of the three patients with a hereditary defect in the biosynthesis of aldosterone originally described by Visser and Cost in 1964. All three presented as newborns with salt-losing syndrome and failure to thrive. The original biochemical studies showed a defect in the 18-hydroxylation of corticosterone. According to the nomenclature proposed by Ulick, this defect would be termed corticosterone...
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