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Review of Approaches to Screening for Niemann-Pick Disease Type A/B, Pompe Disease and Mucopolysaccharidosis Type I
- Authors: Voronin S.V.1, Omelyanovskiy V.V.2,3, Mukhortova P.A.2, Slabikova A.A.2
- Affiliations:
- Research Centre for Medical Genetics, 115478, Moscow, Russian Federation
- Center for Healthcare Quality Assessment and Control, 109028, Moscow, Russian Federation
- Russian Medical Academy of Continuous Professional Education, 125993, Moscow, Russian Federation
- Issue: No 2 (2026)
- Pages: 54-63
- Section: Articles
- URL: https://bulleten-nriph.ru/journal/article/view/3197
- DOI: https://doi.org/10.69541/NRIPH.2026.02.010
- Cite item
Abstract
The clinical significance of studying lysosomal storage diseases (LSDs) has substantially increased with advances in diagnostic methodologies, including newborn screening programs, and the emergence of novel therapeutic options. Given the severity and considerable clinical heterogeneity of LSDs, early diagnosis at the presymptomatic stage is of paramount importance, enabling timely initiation of effective pathogenetic therapy and improving disease prognosis. Global experience demonstrates progressive implementation of newborn screening programs for the most common LSDs, including Pompe disease (PD), mucopolysaccharidosis type I (MPS I), and Niemann-Pick disease types A/B (NP A/B), underscoring their clinical and social significance. The diversity of approaches in population-based newborn screening programs provides an opportunity to adapt international experience in LSD newborn screening to domestic healthcare systems. This review presents an overview of the current state and experience of newborn screening programs for PD, MPS I, and NP A/B worldwide.
About the authors
Sergey Vladimirovich Voronin
Research Centre for Medical Genetics, 115478, Moscow, Russian Federation
Email: voroninsvvlad@mail.ru
Vitaly Vladimirovich Omelyanovskiy
Center for Healthcare Quality Assessment and Control, 109028, Moscow, Russian Federation; Russian Medical Academy of Continuous Professional Education, 125993, Moscow, Russian Federation
Email: vvo@rosmedex.ru
Polina Alekseevna Mukhortova
Center for Healthcare Quality Assessment and Control, 109028, Moscow, Russian Federation
Email: muhortova@rosmedex.ru
Aleksandra Alekseevna Slabikova
Center for Healthcare Quality Assessment and Control, 109028, Moscow, Russian Federation
Email: slabikova@rosmedex.ru
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