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Adult hypophosphatasia with a novel ALPL mutation: Report of an Indian kindred
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 disease exhibits significant clinical heterogeneity...
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| Publié dans: | Bone Rep |
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| Auteurs principaux: | , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Elsevier
2020
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6997823/ https://ncbi.nlm.nih.gov/pubmed/32025537 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bonr.2020.100247 |
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