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Article

Mutational and biochemical findings in adults with persistent hypophosphatasemia.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA - 1 Aug 2017

McKiernan F E, Dong J, Berg R L, Scotty E, Mundt P, Larson L, Rai I

Abstract excerpt

A majority of adults with persistently low serum alkaline phosphatase values carry a pathogenic or likely pathogenic variant in the ALPL gene and also have elevated alkaline phosphatase substrate values in serum and urine. These adults may fall within the spectrum of the adult form of hypophosphatasia. INTRODUCTION: The primary objective of this study was to determine what proportion of adults with persistently...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28401263
DOI: 10.1007/s00198-017-4035-y

Genes

ALPL

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Mutational and biochemical findings in adults with persistent hypophosphatasemia.PMID 28401263Read ↗

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