Genotype–Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia

Hypophosphatasia (HPP) is a rare inborn error of metabolism due to a decreased activity of tissue nonspecific alkaline phosphatase (TNSALP). As the onset and severity of HPP are heterogenous, it can be challenging to determine the pathogenicity of detected rare ALPL variants in symptomatic patients....

詳細記述

保存先:
書誌詳細
出版年:Calcif Tissue Int
主要な著者: Jandl, Nico Maximilian, Schmidt, Tobias, Rolvien, Tim, Stürznickel, Julian, Chrysostomou, Konstantin, von Vopelius, Emil, Volk, Alexander E., Schinke, Thorsten, Kubisch, Christian, Amling, Michael, Barvencik, Florian
フォーマット: Artigo
言語:Inglês
出版事項: Springer US 2020
主題:
Original Research
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7881968/
https://ncbi.nlm.nih.gov/pubmed/33191482
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00223-020-00771-7
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