O01 Hypophosphatasia in adults at a specialist centre in the UK: the spectrum of musculoskeletal disease
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DOI: 10.1093/rheumatology/keaa110
Abstract: Hypophosphatasia (HPP) is a condition arising due to mutations in the gene encoding the tissue-non-specific alkaline phosphatase (TNSALP) isoenzyme (ALPL), leading to deficient activity of TNSALP. It can be inherited as an autosomal dominant or… read more here.
Keywords: hypophosphatasia; diagnosis; specialist centre; rheumatology ... See more keywords