The Global ALPL gene variant classification project: Dedicated to deciphering variants-Reference-Cited by-同舟云学术

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

Published:2024-01 Issue: Volume:178 Page:116947
ISSN:8756-3282
Container-title:Bone
language:en
Short-container-title:Bone

Author:

Farman Mariam R.,Rehder Catherine,Malli Theodora,Rockman-Greenberg Cheryl,Dahir Kathryn,Martos-Moreno Gabriel Ángel,Linglart Agnès,Ozono Keiichi,Seefried Lothar,del Angel Guillermo,Webersinke Gerald,Barbazza Francesca,John Lisa K.,Delana Mudiyanselage Sewmi M.A.,Högler Florian,Nading Erica Burner,Huggins Erin,Rush Eric T.,El-Gazzar Ahmed,Kishnani Priya S.,Högler Wolfgang

Publisher

Elsevier BV

Subject

Histology,Physiology,Endocrinology, Diabetes and Metabolism

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4. Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry;Högler;BMC Musculoskelet. Disord.,2019

5. Burden of illness in adults with Hypophosphatasia: data from the global Hypophosphatasia patient registry;Seefried;J. Bone Miner. Res.,2020

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1. Pyridoxine challenge reflects pediatric hypophosphatasia severity and thereby examines tissue-nonspecific alkaline phosphatase's role in vitamin B6 metabolism;Bone;2024-02