23 May 2025

Difficulties in diagnosis of neurofibromatosis type 1 in a child

neurofibromatosis type 1; neurofibromas; children

Natalya Belykh, Polina Kotova, Inna Pisnyur, Elena Makarkina, Aleksei Chernenko, Yulia Deeva

https://doi.org/10.54890/1694-8882-2025-2-66

13 Dec 2024

Clinical case of Arnold-Chiari syndrome in combination with dextrocardia in a child

Arnold-Chiari syndrome; dextrocardia; clinical case; child

Natalya Belykh, Anastasia Khruleva, Inna Pisnyur, Galina Raeva

https://doi.org/10.54890/1694-8882-2024-5-115

22 Mar 2024

Clinical observation of a 5-year-old patient with chronic granulomatous disease associated with a mutation in the CYBB gene

children; primary immunodeficiency; chronic granulomatous disease

Natalya Belykh, Anastasia Zaharova, Inna Pisnyur

https://doi.org/10.54890/EHJ-2024-1-32

DIFFICULTIES IN DIAGNOSING HEREDITARY NEURODEGENERATIVE DISEASE IN A CHILD

neuronal ceroid lipofuscinosis, child, epilepsy

Natalya Belykh, Yu. Starodubtseva, M. Sologub, Inna Pisnyur

https://doi.org/10.54890/1694-6405_2022_4_86