ArticleInternational journal of molecular sciences2026
Hypophosphatasia: Results of a Country-Wide Selective Screening Program Using NGS Technology as a First-Tier Test.
Aleksander A Pushkov, Ilya S Zhanin, Daria A Chudakova, Anastasia A Rusakova, Dmitry S Demianov, Aleksander V Pakhomov, Valeriya B Koroleva, Yuliya S Koshevaya, Anastasia S Burlachenko, Yury A Eismont and 3 more
Abstract read
In one paragraphArticle in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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What it found
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2 · The registryThe trial behind it
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3 · Its place in the literatureWho cites it
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4 · The recordCorrections and comments
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5 · Who and what moneyAuthors and funding
13 authors.
Aleksander A PushkovNational Medical Research Center of Children's Health, Ministry of Health of the Russian Federation, 119991 Moscow, Russia.
Ilya S ZhaninNational Medical Research Center of Children's Health, Ministry of Health of the Russian Federation, 119991 Moscow, Russia.ORCID 0000-0003-1423-0379 Daria A ChudakovaNational Medical Research Center of Children's Health, Ministry of Health of the Russian Federation, 119991 Moscow, Russia.ORCID 0000-0002-9354-6824 Anastasia A RusakovaNational Medical Research Center of Children's Health, Ministry of Health of the Russian Federation, 119991 Moscow, Russia.ORCID 0009-0000-1193-0519 Dmitry S DemianovNational Medical Research Center of Children's Health, Ministry of Health of the Russian Federation, 119991 Moscow, Russia.
Aleksander V PakhomovNational Medical Research Center of Children's Health, Ministry of Health of the Russian Federation, 119991 Moscow, Russia.
Valeriya B KorolevaCenter for Genomic Technologies «Cerbalab», 199106 Saint-Petersburg, Russia.
Yuliya S KoshevayaCenter for Genomic Technologies «Cerbalab», 199106 Saint-Petersburg, Russia.
Anastasia S BurlachenkoCenter for Genomic Technologies «Cerbalab», 199106 Saint-Petersburg, Russia.
Yury A EismontCenter for Genomic Technologies «Cerbalab», 199106 Saint-Petersburg, Russia.
Andrey P FisenkoNational Medical Research Center of Children's Health, Ministry of Health of the Russian Federation, 119991 Moscow, Russia.
Kirill V SavostyanovNational Medical Research Center of Children's Health, Ministry of Health of the Russian Federation, 119991 Moscow, Russia.ORCID 0000-0003-4885-4171 Funding
No grant is acknowledged in the PubMed record.
6 · The paper itselfAbstract
Hypophosphatasia (HPP) is a rare hereditary metabolic disorder caused by nucleotide variants (NVs) in the
Indexed as
Alkaline PhosphataseHigh-Throughput Nucleotide SequencingHypophosphatasiaFemaleGenetic TestingHumansMaleMutationRussiaAlkaline PhosphataseALPL protein, humanALPL geneHPPhypophosphatasiatissue-nonspecific alkaline phosphatase
Identifiers
PMID42589660
PMCPMC13467040
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