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....

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Detalhes bibliográficos
Publicado no:Calcif Tissue Int
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Springer US 2020
Assuntos:
Original Research
Acesso em linha: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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