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 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...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9654387/
https://www.ncbi.nlm.nih.gov/pubmed/36361766
http://dx.doi.org/10.3390/ijms232112976

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9654387/
https://www.ncbi.nlm.nih.gov/pubmed/36361766
http://dx.doi.org/10.3390/ijms232112976

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