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Long-term outcome of patients with alpha-mannosidosis – A single center study

INTRODUCTION: Alpha-mannosidosis (AM) is a rare autosomal recessive lysosomal storage disease which the natural history has not been exhaustively described yet. The aim of this study was to present the long-term follow-up of 12 Polish patients with AM, evaluate the clinical, biochemical, and molecul...

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Detalles Bibliográficos
Autores principales: Lipiński, Patryk, Różdżyńska-Świątkowska, Agnieszka, Iwanicka-Pronicka, Katarzyna, Perkowska, Barbara, Pokora, Paulina, Tylki-Szymańska, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8856903/
https://www.ncbi.nlm.nih.gov/pubmed/35242565
http://dx.doi.org/10.1016/j.ymgmr.2021.100826

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