ReviewOrphanet journal of rare diseases2009
Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring.
Review in Orphanet journal of rare diseases, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 55 citations in OpenAlex.
- The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.International journal of molecular sciences · 2016Pooled it
- Fabry Disease Diagnosed With Lung Nodule: A Unique Presentation in a Young Female Patient.Cureus · 2026Article
- Article
- Expert Opinion on the Conceptual, Clinical, and Therapeutic Aspects of Fabry Nephropathy: A Nephrologists' Perspective.Kidney & blood pressure research · 2026Review
- Fabry Disease in Women: Genetic Basis, Available Biomarkers, and Clinical Manifestations.Genes · 2023Review
- Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.Genes · 2023Article
- Management of Hypertension in Fabry Disease.Electrolyte & blood pressure : E & BP · 2023Review
- An Overview of Molecular Mechanisms in Fabry Disease.Biomolecules · 2022Review
- Elevated Ambulatory Blood Pressure Measurements are Associated with a Progressive Form of Fabry Disease.High blood pressure & cardiovascular prevention : the official journal of the Italian Society of Hypertension · 2021Article
- Global research on Fabry's disease: Demands for a rare disease.Molecular genetics & genomic medicine · 2020Article
- Progressive cardiac involvement in a compound heterozygote Fabry patient: a case report.European heart journal. Case reports · 2018Article
- Enzyme replacement therapy in a patient of heterozygous Fabry disease: clinical and pathological evaluations by repeat kidney biopsy and a successful pregnancy.CEN case reports · 2017Article
- Fabry disease and incidence of cancer.Orphanet journal of rare diseases · 2017Article
- Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset Fabry mutation (IVS4 + 919G > A).Orphanet journal of rare diseases · 2014Article
- Article
- Electrochemical characterization of globotriose-containing self-assembled monolayers on nanoporous gold and their binding of soybean agglutinin.Carbohydrate research · 2013Article
- Animal models for metabolic, neuromuscular and ophthalmological rare diseases.Nature reviews. Drug discovery · 2013Review
- Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal).Genetics in medicine : official journal of the American College of Medical Genetics · 2012Article
- Newborn screening for lysosomal storage diseases: an ethical and policy analysis.Journal of inherited metabolic disease · 2012Article
- Descriptive epidemiology of Fabry disease among beneficiaries of the Specified Disease Treatment Research Program in Japan.Journal of epidemiology · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIn Fabry disease (alpha-galactosidase A deficiency) accumulation of Globotriaosylceramide (Gb3) leads to progressive organ failure and premature death. The introduction of enzyme replacement therapy (ERT) was the beginning of a new era in this disorder, and has prompted a broad range of research activities. This review aims to summarize recent developments and progress with high impact for Fabry disease.
methodsA Pubmed analysis was performed using the search terms "Fabry disease", "Anderson-Fabry disease", "alpha-galactosidase A" and "Gb3". Of the given publications by 31st January 2009 only original articles recently published in peer reviewed journals were included for this review. Case reports were included only when they comprised a new aspect. In addition we included relevant conference abstracts when the results had not already been published as original articles.
resultsApart from Gb3-accumulation cellular and organ specific damages may be related also to inflammatory and immunological consequences. It will be interesting whether this may lead to new therapeutic strategies in the treatment of Fabry disease. Since newborn screening is still difficult in Fabry disease, detection of patients in populations at risk is of great importance. Undiagnosed patients with Fabry disease may still be found in cohorts of subjects with renal diseases, cardiomyopathy and TIA or stroke. Efforts should be undertaken to identify these individuals and initialise ERT in order to hault disease progression. It has also been demonstrated that Gb3-accumulation leads to pre-clinical damages and it is believed that early treatment may be the only possibility so far to prevent irreversible organ damage.
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What OpenQuestion holds
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.