Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Diego Ardigò MD, PhD"'
Autor:
Line Borgwardt MD, Nathalie Guffon MD, Yasmina Amraoui MD, Simon A. Jones MD, Linda De Meirleir MD, Allan M. Lund MD, Mercedes Gil-Campos MD, Johanna M. P. Van den Hout MD, Anna Tylki-Szymanska MD, Silvia Geraci MS, Diego Ardigò MD, PhD, Federica Cattaneo MD, Paul Harmatz MD, Dawn Phillips PT, MS, PhD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 6 (2018)
Alpha-mannosidosis, a rare lysosomal storage disorder caused by deficiency of the lysosomal enzyme alpha-mannosidase, results in accumulation of mannose-rich glycoproteins in the tissues and sequelae leading to intellectual disability, ataxia, impair
Externí odkaz:
https://doaj.org/article/b61a305d443c4bb0bc7dbf1805d1bf29
