ReviewCurrent treatment options in neurology2016
Fabry Disease: Recognition, Diagnosis, and Treatment of Neurological Features.
Review in Current treatment options in neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
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Who cites it
12 citing papers in PubMed, 27 citations in OpenAlex.
- Cryptogenic strokes and neurological symptoms of Fabry disease.Frontiers in neurology · 2025Article
- Complement activation and cellular inflammation in Fabry disease patients despite enzyme replacement therapy.Frontiers in immunology · 2024Article
- Late-onset fabry disease due to the p.Phe113Leu variant: the first italian cluster of five families.Metabolic brain disease · 2023Article
- Fabry Disease: Current and Novel Therapeutic Strategies. A Narrative Review.Current neuropharmacology · 2023Review
- A new approach to identifying patients with elevated risk for Fabry disease using a machine learning algorithm.Orphanet journal of rare diseases · 2021Article
- Review
- A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family.Annals of neurology · 2020Article
- Translational readthrough ofRNA biology · 2020Article
- Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.PloS one · 2018Article
- Induced pluripotent stem cell models of lysosomal storage disorders.Disease models & mechanisms · 2017Review
- A Prospective Treatment Option for Lysosomal Storage Diseases: CRISPR/Cas9 Gene Editing Technology for Mutation Correction in Induced Pluripotent Stem Cells.Diseases (Basel, Switzerland) · 2017Review
- A prospective, observational study of patients with uncommon distal symmetric painful small-fiber neuropathy.PloS one · 2017Observational
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 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
opinion statementFabry disease is an X-linked, lysosomal storage disorder caused by a mutation in the GLA gene leading to a deficiency in alpha-galactosidase A enzyme (α-Gal A) activity, which in turn results in accumulation of globotriaosylceramide in the vascular endothelium and smooth muscle cells of different organs, including kidney and heart, finally leading to impairment or failure of organ function. The central and peripheral nervous systems are also affected leading to neurological manifestations such as cerebrovascular diseases, small fiber neuropathy (SFN), and dysautonomic disorders that may be the presenting clinical features in a proportion of patients. This review offers a complete update of all neurological aspects of Fabry disease and therapeutic options. The rarity of disease, as well as the incomplete knowledge regarding natural history, pathogenic mechanisms, and the uncertain efficacy of available therapies, make imperative the acquisition of standardized data on natural disease course. These data are fundamental for the development of new treatments better able to access the central nervous system, to bypass the neutralizing antibodies and to improve the heart and kidney function.
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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.