Article
Hypophosphatasia: levels of bone alkaline phosphatase immunoreactivity in serum reflect disease severity.
The Journal of clinical endocrinology and metabolism - 1 Jun 1996
Whyte M P, Walkenhorst D A, Fedde K N, Henthorn P S, Hill C S
Abstract excerpt
Hypophosphatasia is a rare metabolic bone disease characterized biochemically by deficient enzymatic activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). All isoforms of TNSALP (e.g. bone and liver TNSALP), apparently differing only by posttranslational modifications, are affected. To explore the biochemical basis and extremely variable severity of hypophosphatasia, we used 2-site...
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