Whole genome sequencing in adults with clinical hallmarks of hypophosphatasia negative for ALPL variants

Margaret Robb November 12, 2024

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Categories: Scientific Publications, Scientific Publications (new)

Tags: Adeno-associated virus vector, alkaline phosphatase, Genetic Therapies, hypophosphatasia, Progress, therapeutics

Isabella and Julia

They are identical mirror twins who overcame all odds to survive their arrival. Isabella & Julia were born at 35 weeks and 6 days. Brought…

Taralyn Naslonski November 6, 2020

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

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Margaret Robb January 23, 2024

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Hypophosphatasia: Biochemical hallmarks validate the expanded pediatric clinical nosology

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softbones October 28, 2020

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