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Hypophosphatasia

Hypophosphatasia (HPP) is an inherited metabolic disease caused by loss-of-function mutations in the tissue non-specific alkaline phosphatase (TNAP) gene. Reduced activity of TNAP leads to the accumulation of its substrates, mainly inorganic pyrophosphate and pyridoxal-5′-phosphate, metabolic aberra...

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Detalles Bibliográficos
Autores principales: Tournis, Symeon, Yavropoulou, Maria P., Polyzos, Stergios A., Doulgeraki, Artemis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8658462/
https://www.ncbi.nlm.nih.gov/pubmed/34884378
http://dx.doi.org/10.3390/jcm10235676