Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Natalya L. Pechatnikova"'
Autor:
Galina V. Baidakova, Alexander A. Baranov, Irina V. Vakhlova, Nato D. Vashakmadze, Elena Yu. Voskoboeva, Ekaterina Yu. Zakharova, Ludmila M. Kuzenkova, Sergey I. Kutsev, Valentina I. Larionova, Tina V. Lobzhanidze, Ludmila K. Mikhailova, Svetlana V. Mikhailova, Sergey V. Moiseev, Leyla S. Namazova-Baranova, Sergey S. Nikitin, Natalya L. Pechatnikova, Olga A. Polyakova, Alla N. Semyachkina, Olga V. Udalova
Publikováno v:
Педиатрическая фармакология, Vol 19, Iss 4, Pp 342-353 (2022)
This article presents modern data on epidemiology, etiology, and clinical manifestations of mucopolysaccharidosis (MPS) type I in children. MPS develops due to deficiency of particular lysosomal enzyme which determines the disease type. The article c
Externí odkaz:
https://doaj.org/article/727a37cc2992480cbec2eff763856b50
Autor:
Ilya V. Kanivets, Maksim A Yunin, Galina Baydakova, Elena V. Saifullina, Denis V Pyankov, Natalya L Pechatnikova, Ekaterina Zakharova, Sergey Korostelev, Marina V. Kurkina, Svetlana V Mihaylova
Publikováno v:
Metabolic brain disease. 35(6)
Glutaric aciduria type 1 (GA1, deficiency of glutaryl CoA dehydrogenase, glutaric acidemia type 1) (ICD-10 code: E72.3; MIM 231670) is an autosomal recessive disease caused by mutations in the gene encoding the enzyme glutaryl CoA dehydrogenase (GCDH
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46ea69eb05da9d51099afa76f110dff6
https://pubmed.ncbi.nlm.nih.gov/32240488
https://pubmed.ncbi.nlm.nih.gov/32240488