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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2020
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7881968/
https://www.ncbi.nlm.nih.gov/pubmed/33191482
http://dx.doi.org/10.1007/s00223-020-00771-7

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