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