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Published in 2017 at "Bone"
DOI: 10.1016/j.bone.2017.02.011
Abstract: Hypophosphatasia (HPP) is the inborn-error-of-metabolism that features low serum alkaline phosphatase (ALP) activity (hypophosphatasemia) caused by loss-of-function mutation(s) of the gene that encodes the tissue-nonspecific isoenzyme of ALP (TNSALP). Autosomal recessive or autosomal dominant inheritance…
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Keywords:
hypophosphatasia overview;
hpp;
overview 2017;
tnsalp ... See more keywords