Clinical characteristics and modern approaches to diagnostics and therapy of acid sphingomyelinase deficiency (Niemann–Pick disease type AB) | Shmarin | Medical Genetics

Medical Genetics
Medicinskaâ genetika

ISSN 2073-7998 (Print)

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Shmarin V.V., Vasilenko A.A., Zarubina V.V., Bocharova T.I., Zakharova E.Yu. Clinical characteristics and modern approaches to diagnostics and therapy of acid sphingomyelinase deficiency (Niemann–Pick disease type AB). Medical Genetics. 2025;24(1):3-12. (In Russ.) https://doi.org/10.25557/2073-7998.2025.01.3-12

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ISSN 2073-7998 (Print)

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About the Authors

V. V. Shmarin
Research Centre for Medical Genetics; I.M. Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation

1, Moskvorechie st., Moscow, 115478

8/2, Trubetskaya st., Moscow, 119048

A. A. Vasilenko
Research Centre for Medical Genetics
Russian Federation

1, Moskvorechie st., Moscow, 115478

V. V. Zarubina
Morozovskaya Children’s City Clinical Hospital
Russian Federation

1/9, 4th Dobryninsky Lane, Moscow, 119049

T. I. Bocharova
Children’s City Clinical Hospital named after Z.A. Bashlyaeva
Russian Federation

28, Geroev Panfilovtsev st., Moscow, 125373

E. Yu. Zakharova
Research Centre for Medical Genetics
Russian Federation

1, Moskvorechie st., Moscow, 115478

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