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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

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