SUN-LB089 Mild Form of Childhood Hypophosphatasia: A Novel Mutation

Introduction: Hypophosphatasia (HPP) is a rare inherited metabolic bone disorder, caused by loss-of-function mutations within the gene that encodes the tissue nonspecific alkaline phosphatase (TNSALP). Extracellular accumulation of TNSALP natural substrates leads to inhibition of teeth and bone mine...

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Detaylı Bibliyografya
Yayımlandı:J Endocr Soc
Asıl Yazarlar: Benzrihen, María, D'Amato, Silvia, Moratto, Eduardo, Rodríguez, Patricia, Forclaz, Maria
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Endocrine Society 2019
Konular:
Bone and Mineral Metabolism
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6553031/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SUN-LB089
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