Hypophosphatasia — aetiology, nosology, pathogenesis, diagnosis and treatment
Hypophosphatasia — aetiology, nosology, pathogenesis, diagnosis and treatment
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London: Nature Publishing Group UK
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English
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London: Nature Publishing Group UK
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Key Points
Hypophosphatasia is the autosomal dominant or autosomal recessive inborn error of metabolism with an extraordinary range of severity caused by loss-of-function mutations within the gene that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP)
Extracellular accumulation of the TNSALP substrate inorganic pyropho...
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Full title
Hypophosphatasia — aetiology, nosology, pathogenesis, diagnosis and treatment
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TN_cdi_proquest_miscellaneous_1772834481
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1772834481
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ISSN
1759-5029
E-ISSN
1759-5037
DOI
10.1038/nrendo.2016.14
