Zobrazeno 1 - 3
of 3
pro vyhledávání: '"T. Yu. Proshlyakova"'
Autor:
E. V. Saifullina, R. V. Magzhanov, A. K. Mardanova, T. Yu. Proshlyakova, E. Yu. Zakharova, S. A. Klyushnikov, S. N. Illarioshkin
Publikováno v:
Неврология, нейропсихиатрия, психосоматика, Vol 8, Iss 3, Pp 66-70 (2016)
The paper presents a brief review of an update of the etiology and pathogenesis of Niemann–Pick disease type C (NPC), a rare neurovisceral lysosomal storage disease. It highlights the main clinical manifestations and classification of the disease.
Externí odkaz:
https://doaj.org/article/584973fbed9140e08323e26d8768098f
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 63, Iss 3, Pp 19-25 (2018)
The review summarizes clinical features, biochemical and molecular-genetic characteristics, laboratory and instrumental indicators, as well as approaches to the treatment of ricket-like diseases: vitamin D-dependent rickets, renal tubular acidosis, d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7786130e423bd0625300e046b307818
https://doi.org/10.21508/1027-4065-2018-63-3-19-25
https://doi.org/10.21508/1027-4065-2018-63-3-19-25
Publikováno v:
Annals of the Russian academy of medical sciences. 67:60-65
Niemann-Pick disease, type C is a rare hereditary disorder of the group of lisosomal storage diseases, caused by mutations in the genes NPC1 or NPC2. Depending on the onset age, several clinical forms of this disease, which differs by manifestation a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::93ef86b0254efb7611521ddec5b43753
https://doi.org/10.15690/vramn.v67i12.483
https://doi.org/10.15690/vramn.v67i12.483