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Mannosidosis

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Mannosidosis" returned 3 free, full-text review articles. First few results:
Alpha-Mannosidosis: Therapeutic Strategies.
Last Updated: Nov 14, 2018

Alpha-mannosidosis (α-mannosidosis) is a rare lysosomal storage disorder with an autosomal recessive inheritance caused by mutations in the gene encoding for the lysosomal α-d-mannosidase. So far, 155 variants from 191 patients have been identified and in part characterized at the ...

Lysosomal alpha-mannosidase and alpha-mannosidosis.
Last Updated: Sep 23, 2019

Lysosomal alpha-mannosidase with acidic pH optimum is ubiquitous in human tissues where is expressed in two major forms, A and B that are the product of a single gene located on chromosome 19. Mutations in the gene encoding for alpha-mannosidase cause alpha- mannosidosis, an autosomal ...

Alpha-mannosidosis: a report of 2 siblings and review of the literature.
Last Updated: Jan 06, 2014

Alpha-mannosidosis is a rare lysosomal storage disorder with a heterogeneous clinical presentation. We describe a set of siblings with alpha-mannosidosis. The older child presented with a severe phenotype with multisystem involvement and had progressive deterioration in her motor ...

Full PubMed Review articles matches at NCBI:
3 Free Review Articles 9 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Mannosidosis" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Mannosidosis" returned 46 free, full-text research articles. First few results:
Recognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working group.
Last Updated: Nov 07, 2019

Alpha-mannosidosis is an ultra-rare progressive lysosomal storage disorder caused by deficiency of alpha-mannosidase. Timely diagnosis of the disease has the potential to influence patient outcomes as preventive therapies can be initiated at an early stage. However, no internationally-recognised ...

Retinal and optic nerve degeneration in α-mannosidosis.
Last Updated: Apr 15, 2019

α-mannosidosis is a rare, autosomal-recessive, lysosomal storage disease caused by a deficient activity of α-mannosidase. Typical symptoms include intellectual, motor and hearing impairment, facial coarsening, and musculoskeletal abnormalities. Ocular pathologies reported previously ...

Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial.
Last Updated: Nov 04, 2019

This phase III, double-blind, randomised, placebo-controlled trial (and extension phase) was designed to assess the efficacy and safety of velmanase alfa (VA) in alpha-mannosidosis (AM) patients.

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46 Free Research Articles 162 Research Articles