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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...
Autores principales: | Lipiński, Patryk, Różdżyńska-Świątkowska, Agnieszka, Iwanicka-Pronicka, Katarzyna, Perkowska, Barbara, Pokora, Paulina, Tylki-Szymańska, Anna |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2021
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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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