Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Anna Yu. Rachkova"'
Autor:
Olga Ya. Smirnova, Nato D. Vashakmadze, Maria S. Karaseva, Natalia V. Zhurkova, Anna Yu. Rachkova, Leyla S. Namazova-Baranova
Publikováno v:
Вопросы современной педиатрии, Vol 23, Iss 1, Pp 6-12 (2024)
Fabry disease (FD), or Andersen-Fabry disease, is a rare hereditary lysosomal disease (sphingolipids storage disease) characterized by progressive multisystem involvement. The major symptoms among children are neuropathic pain / acroparesthesia, angi
Externí odkaz:
https://doaj.org/article/321c1dc2edfe441f83736bda0fa6bcef
Autor:
Nataliya V. Zhurkova, Nato V. Vashakmadze, Nataliya S. Sergienko, Anastasiya N. Dudina, Mariya S. Karaseva, Liliya R. Selimzyanova, Anna Yu. Rachkova, Yuliya Yu. Kotalevskaya, Andrey N. Surkov
Publikováno v:
Вопросы современной педиатрии, Vol 22, Iss 6, Pp 560-571 (2023)
Hereditary amino acid metabolism disorders (aminoacidopathies) are clinically and genetically heterogeneous group of hereditary metabolic diseases caused by enzymes deficiency involved in amino acid metabolism, that finally leads to progressive damag
Externí odkaz:
https://doaj.org/article/7d41ce48214f4afeb551e41a2ebf626a