Mortality in patients with alpha-mannosidosis: a review of patients’ data and the literature

BACKGROUND: Alpha-mannosidosis is a rare autosomal recessive lysosomal storage disorder (LSD) caused by reduced activity of alpha-mannosidase. Clinical manifestations include skeletal dysmorphism, mental impairment, hearing loss and recurrent infections. The severe type of the disease leads to early...

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Detalles Bibliográficos
Autores principales: Hennermann, Julia B., Raebel, Eva M., Donà, Francesca, Jacquemont, Marie-Line, Cefalo, Graziella, Ballabeni, Andrea, Malm, Dag
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9308362/
https://www.ncbi.nlm.nih.gov/pubmed/35871018
http://dx.doi.org/10.1186/s13023-022-02422-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9308362/
https://www.ncbi.nlm.nih.gov/pubmed/35871018
http://dx.doi.org/10.1186/s13023-022-02422-6

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