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

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...

Full description

Bibliographic Details
Main Authors: Patryk Lipiński, Agnieszka Różdżyńska-Świątkowska, Katarzyna Iwanicka-Pronicka, Barbara Perkowska, Paulina Pokora, Anna Tylki-Szymańska
Format: Article
Language:English
Published: Elsevier 2022-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
alpha-Mannosidosis
Lysosomal storage disease
MAN2B1 gene
Congenital sensorineural hearing loss
Growth decline
Online Access:http://www.sciencedirect.com/science/article/pii/S221442692100121X

Internet

http://www.sciencedirect.com/science/article/pii/S221442692100121X

Similar Items