Article
[Tissue-nonspecific alkaline phosphatase and hypophosphatasia].
Clinical calcium - 1 Feb 2014
Oda Kimimitsu, Kinjoh Natsuko Numa, Sohda Miwa, Komaru Keiichi, Amizuka Norio
Abstract excerpt
There are four isozymes for human alkaline phosphatase (ALP) : tissue-nonspecific ALP (TNSALP), intestinal ALP, placental ALP and germ cell ALP. We present a brief history of TNSALP and review progress in research on it and a rare inborn error of metabolism called hypophosphatasia (HPP), which is caused by various loss-of-function mutations in the ALPL gene encoding TNSALP. HPP is characterized by decreased...
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