Adult hypophosphatasia with a novel ALPL mutation: Report of an Indian kindred
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DOI: 10.1016/j.bonr.2020.100247
Abstract: Hypophosphatasia is an inborn error in metabolism characterized by low serum alkaline phosphatase (ALP) activity resulting from deactivating mutations in TNSALP (also known as ALPL), the gene that encodes the ‘tissue-specific’ isoenzyme of ALP. The… read more here.
Keywords: hypophosphatasia; report; adult hypophosphatasia; kindred adult ... See more keywords