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

doi:10.3390/ijms232112976

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Article

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

International journal of molecular sciences - 26 Oct 2022

Glotov Oleg S, Savostyanov Kirill V, Nagornova Tatyana S, Chernov Alexandr N, Fedyakov Mikhail A, Raspopova Aleksandra N, Krasnoukhov Konstantin N, Danilov Lavrentii G, Moiseeva Nadegda V, Kalinin Roman S, Tsai Victoria V, Eismont Yuri A, Voinova Victoria Y, Vitebskaya Alisa V, Gurkina Elena Y, Kuzenkova Ludmila M, Sosnina Irina B, Pushkov Alexander A, Zhanin Ilya S, Zakharova Ekaterina Y

Abstract excerpt

(1) Hypophosphatasia (HPP) is a rare inherited disease caused by mutations (pathogenic variants) in the ALPL gene which encodes tissue-nonspecific alkaline phosphatase (TNSALP). HPP is characterized by impaired bone mineral metabolism due to the low enzymatic activity of TNSALP. Knowledge about the structure of the gene and the features and functions of various ALPL gene variants, taking into account population...

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Identifiers

PMID: 36361766
DOI: 10.3390/ijms232112976
PMCID: PMC9654387

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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