Article
Hypophosphatasia: Results of a Country-Wide Selective Screening Program Using NGS Technology as a First-Tier Test.
International journal of molecular sciences - 4 Aug 2026
Pushkov Aleksander A, Zhanin Ilya S, Chudakova Daria A, Rusakova Anastasia A, Demianov Dmitry S, Pakhomov Aleksander V, Koroleva Valeriya B, Koshevaya Yuliya S, Burlachenko Anastasia S, Eismont Yury A, Glotov Oleg S, Fisenko Andrey P, Savostyanov Kirill V
Abstract excerpt
Hypophosphatasia (HPP) is a rare hereditary metabolic disorder caused by nucleotide variants (NVs) in the ALPL gene, leading to a deficiency of tissue-nonspecific alkaline phosphatase (TNSALP). HPP has a variable clinical presentation (such as impaired mineralization of bones and teeth, respiratory dysfunctions, muscle weakness, muscle and bone pain, growth deficiency, nephrocalcinosis, seizures, encephalopathy,...
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