Update on the Management of Hypophosphatasia

Overview

Journal Ther Adv Musculoskelet Dis

Date 2019 Aug 16

PMID 31413732

Citations 9

Authors

V Choida

J S Bubbear

Affiliations

Soon will be listed here.

Abstract

Hypophosphatasia is a rare inherited disease caused by a loss of function mutations in the gene that codes for the tissue-nonspecific alkaline phosphatase enzyme. It is autosomally inherited and at least 388 different genetic defects have been identified. The clinical presentation is variable from a severe perinatal form, that is fatal if untreated, to adult-onset disease. This review covers the pathophysiology, diagnosis and current management option including the recently licensed enzyme replacement therapy asfotase alfa.

Citing Articles

Raman Spectroscopic Analysis of Molecular Structure and Mechanical Properties of Hypophosphatasia Primary Tooth.

Imamura H, Adachi T, Zhu W, Yamamoto T, Kanamura N, Onoda H Molecules. 2025; 29(24.

PMID: 39770137 PMC: 11678008. DOI: 10.3390/molecules29246049.

Diagnosis, treatment, and follow-up of patients with hypophosphatasia.

Cardenas-Aguilera J, Gonzalez-Lopez V, Zarante-Bahamon A, Prieto-Rivera J, Baquero-Rodriguez R, Chacon-Acevedo K Endocrine. 2024; 87(2):400-419.

PMID: 39663303 PMC: 11811241. DOI: 10.1007/s12020-024-04054-1.

New Empirical Bayes Models to Jointly Analyze Multiple RNA-Sequencing Data in a Hypophosphatasia Disease Study.

Kinsman D, Hu J, Zhang Z, Li G Genes (Basel). 2024; 15(4).

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Dental manifestation and management of hypophosphatasia.

Okawa R, Nakano K Jpn Dent Sci Rev. 2022; 58:208-216.

PMID: 35814738 PMC: 9260292. DOI: 10.1016/j.jdsr.2022.06.002.

Case Report: Variations in the Gene in Chinese Patients With Hypophosphatasia.

Zhang Q, Qin Z, Yi S, Wei H, Zhou X, Shen F Front Genet. 2021; 12:732621.

PMID: 34712267 PMC: 8546181. DOI: 10.3389/fgene.2021.732621.

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