Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants

IntroductionPompe disease (PD) is a rare inherited recessive autosomal disorder caused by pathogenic nucleotide variants within the gene GAA, encoding Acid alpha-glucosidase (GAA), the lysosomal enzyme catalyzing glycogen breakdown to glucose.MethodsWe performed molecular screening in a cohort of 15...

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Bibliografiske detaljer

Principais autores:	Aleksander Pushkov, Daria Chudakova, Ilya Zhanin, Sergey Nikitin, Elena Basargina, Lydmila Kuzenkova, Daria Andreeva, Maria Vasil’eva, Sergey Vasichkin, Albina Gabitova, Elena Gaisina, Elena Saifullina, Amina Gamzatova, Olga Gilvanova, Vyacheslav Dudin, Olga Ergina, Sergey Kurbatov, Elena Noskova, Elena Osipova, Olga Tihonova, Ekaterina Fedotova, Evgeny Nuzhny, Viktoria Chernikova, Anastasia Yamshchikova, Lubov Kyzina, Natalia Irinina, Olga Rohlenko, Yulia Kutkova, Natalia Popkova, Alsy Ahunova, Alina Alexeeva, Natalia Mazanova, Nataliya Sdvigova, Leyla Gandaeva, Olga Zharova, Tatyana Podkletnova, Alexey Sukhozhenko, Anastasia Rusakova, Dmitry Demianov, Aleksandr Pakhomov, Andrey Fisenko, Kirill Savostyanov
Format:	Artigo
Sprog:	Inglês
Udgivet:	Frontiers Media S.A. 2026-01-01
Serier:	Frontiers in Molecular Biosciences
Fag:	gene GAA genetic screening infantile-onset pompe disease (IOPD) late-onset pompe disease (LOPD) next-generation sequencing NGS
Online adgang:	https://www.frontiersin.org/articles/10.3389/fmolb.2025.1745925/full
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