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pro vyhledávání: '"Lipofuscinoses ceróides nueronais"'
Autor:
Andrea Nunes, Ana Paula Pereira Scholz de Magalhães, Caio Cunha, Emília Katiane Embiruçu de Araújo Leão, Roberto Giugliani, Marielza Veiga, Joanna Goes Castro Meira, Diana Rojas Málaga
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Volume: 8, Article number: e20200010, Published: 16 DEC 2020
Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020)
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020)
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Neuronal ceroid lipofuscinoses (NCLs), also referred as “Batten disease”, are a group of thirteen rare genetic conditions, which are part of the lysosomal storage disorders. CLN type 2 (CLN2) is caused by the deficient activity of the tripeptidyl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d12f8090a76dba042b274122a8bb6068
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100504&lng=en&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100504&lng=en&tlng=en
Publikováno v:
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
The neuronal ceroid lipofuscinoses (NCL) are a group of inherited progressive neurodegenerative disorders with presentation from infancy to adulthood. Three main childhood forms can be established on the basis of age of onset, clinical course, and ul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3056::0aaf1ed41b0001b9af48344708f37a51