المؤلفون: Nataliya V. Zhurkova, Nato V. Vashakmadze, Andrey N. Surkov, Tatiana V. Turti, Kristina V. Bogdanova, Yuliya Yu. Kotalevskaya, Ekaterina Yu. Zakharova, Leyla S. Namazova-Baranova

المصدر: Вопросы современной педиатрии, Vol 23, Iss 3, Pp 188-196 (2024)

مصطلحات موضوعية: niemann-pick disease, type а, acid sphingomyelinase, hepatosplenomegaly, cherry-red spot, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://vsp.spr-journal.ru/jour/article/view/3525; https://doaj.org/toc/1682-5527; https://doaj.org/toc/1682-5535

URL الوصول: https://doaj.org/article/6f938547a3b7411995ac4e87c59b3a44

المؤلفون: 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

المصدر: Вопросы современной педиатрии, Vol 22, Iss 6, Pp 560-571 (2023)

مصطلحات موضوعية: neonatal screening, aminoacidopathy, hereditary amino acid metabolism disorders, urea cycle disorders, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://vsp.spr-journal.ru/jour/article/view/3358; https://doaj.org/toc/1682-5527; https://doaj.org/toc/1682-5535

URL الوصول: https://doaj.org/article/7d41ce48214f4afeb551e41a2ebf626a