Lanean...

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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Endocr Soc
Egile Nagusiak: Benzrihen, María, D'Amato, Silvia, Moratto, Eduardo, Rodríguez, Patricia, Forclaz, Maria
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Endocrine Society 2019
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6553031/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SUN-LB089
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!