Biochemical algorithm to identify individuals with ALPL variants among subjects with persistent hypophosphatasaemia

Denise Goodbar March 22, 2022

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Categories: Scientific Publications, Scientific Publications (new)

Tags: alkaline phosphatase, ALPL, hypophosphatasaemia, hypophosphatasia, Metabolic bone diseases

Can we identify individuals with an ALPL variant in adults with persistent hypophosphatasaemia?

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Denise Goodbar November 5, 2020

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Biochemical, clinical and genetic characteristics in adults with persistent hypophosphatasaemia; Data from an endocrinological outpatient clinic in Denmark

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Denise Goodbar July 14, 2021

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Systemic Effects of Hypophosphatasia. Characterization of Two Novel Variants in the Alpl Gene

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Margaret Robb November 22, 2023

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The Global ALPL gene variant classification project: Dedicated to deciphering variants

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Margaret Robb January 23, 2024

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New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry

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Margaret Robb August 15, 2024

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