Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population

Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population

(1) Hypophosphatasia (HPP) is a rare inherited disease caused by mutations (pathogenic variants) in the <i>ALPL</i> gene which encodes tissue-nonspecific alkaline phosphatase (TNSALP). HPP is characterized by impaired bone mineral metabolism due to the low enzymatic activity of TNSALP. K...

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Main Authors: Oleg S. Glotov, Kirill V. Savostyanov, Tatyana S. Nagornova, Alexandr N. Chernov, Mikhail A. Fedyakov, Aleksandra N. Raspopova, Konstantin N. Krasnoukhov, Lavrentii G. Danilov, Nadegda V. Moiseeva, Roman S. Kalinin, Victoria V. Tsai, Yuri A. Eismont, Victoria Y. Voinova, Alisa V. Vitebskaya, Elena Y. Gurkina, Ludmila M. Kuzenkova, Irina B. Sosnina, Alexander A. Pushkov, Ilya S. Zhanin, Ekaterina Y. Zakharova
Format: Article
Language:English
Published: MDPI AG 2022-10-01
Series:International Journal of Molecular Sciences
Subjects:
hypophosphatasia
clinical forms of hypophosphatasia
tissue-specific alkaline phosphatase
<i>ALPL</i> gene
SNP
residual activity of <i>ALPL</i> mutant alleles
Online Access:https://www.mdpi.com/1422-0067/23/21/12976

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