ArticleJournal of inherited metabolic disease2014
The natural course and complications of alpha-mannosidosis--a retrospective and descriptive study.
Article in Journal of inherited metabolic disease, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 citations in OpenAlex.
- Clinical outcomes in alpha-mannosidosis: a systematic review of therapeutic approaches.Orphanet journal of rare diseases · 2026Pooled it
- Extended long-term efficacy and safety of velmanase alfa treatment up to 12 years in patients with alpha-mannosidosis.Journal of inherited metabolic disease · 2025Trial
- 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.Journal of inherited metabolic disease · 2018Trial
- Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis.Journal of inherited metabolic disease · 2018Trial
- Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.Orphanet journal of rare diseases · 2015Trial
- Changes in motor function, quality of life, and clinical manifestations in patients with Alpha-mannosidosis treated with Velmanase Alfa: Data from the French Étoile Alpha registry.Molecular genetics and metabolism reports · 2026Article
- Alpha-Mannosidosis in a 3.5-Year-Old Girl: A Case Report.Clinical case reports · 2026Article
- Clinical response to systemic AAV gene therapy in a large animal model of late-stage lysosomal storage disease.Gene therapy · 2026Article
- Metabolic masqueraders of paediatric and adult rheumatic diseases.Nature reviews. Rheumatology · 2026Review
- NOD-m: a novel clinical score for predicting hearing loss in inherited metabolic disorders.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2025Article
- Effect of disease progression on CSF-directed AAV gene therapy in a large brain animal model of lysosomal storage disease.Molecular therapy. Methods & clinical development · 2025Article
- Disease profile in a cohort of Brazilian patients diagnosed with alpha-mannosidosis.Molecular genetics and metabolism reports · 2025Article
- Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey.Orphanet journal of rare diseases · 2025Article
- Retrospective Study of Clinical and Genetic Profiles of Alpha-Mannosidosis Patients From the UAE.JIMD reports · 2025Article
- Delayed diagnosis and clinical course of alpha-mannosidosis: A retrospective study of 25 patients with varying severity.Genetics in medicine open · 2025Article
- Widespread correction of brain pathology in feline alpha-mannosidosis by dose escalation of intracisternal AAV vector injection.Molecular therapy. Methods & clinical development · 2024Article
- Long-term outcomes in two adult siblings with Fucosidosis - Diagnostic odyssey and clinical manifestations.Molecular genetics and metabolism reports · 2023Article
- Global Proteomics for Identifying the Alteration Pathway of Niemann-Pick Disease Type C Using Hepatic Cell Models.International journal of molecular sciences · 2023Article
- Mortality in patients with alpha-mannosidosis: a review of patients' data and the literature.Orphanet journal of rare diseases · 2022Review
- Long-term outcome of patients with alpha-mannosidosis - A single center study.Molecular genetics and metabolism reports · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Most alpha-mannosidosis patients described have been children and information on the natural course of the disorder has been based on a very limited number of observations. In order to assess the disease presentation in detail and to study disease characteristics, a study was started in 1991 and has been ongoing for over 20 years. Patients with confirmed alpha-mannosidosis were recruited through The International Society for Mannosidosis and Related Diseases (ISMRD) where families affected with alpha-mannosidosis received a questionnaire on general clinical information to be filled out by the responsible physician. The questionnaire was returned by 125 patients (64%). Of these, 45 patients were 15 years old or older at the time of evaluation. The questionnaire allowed us to assess the following features: Facial dysmorphism, columnar disease, arthritis, myopathy, hearing impairment, mental impairment, psychosis, bone disease and motor function as well as general health. This study describes the progression of alpha-mannosidosis and may be helpful in determining the clinical characteristics for assessments of prognosis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.