Adult hypophosphatasia with a novel ALPL mutation: Report of an Indian kindred

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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Bibliographic Details
Main Authors: Sanjay K. Bhadada, Rimesh Pal, Vandana Dhiman, Nerea Alonso, Stuart H. Ralston, Simran Kaur, Rajat Gupta
Format: Article
Language:English
Published: Elsevier 2020-06-01
Series:Bone Reports
Subjects:
Alkaline phosphatase
Hypophosphatasia
Fragility fractures
ALPL
Online Access:http://www.sciencedirect.com/science/article/pii/S2352187220300061

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http://www.sciencedirect.com/science/article/pii/S2352187220300061

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