ReviewDiseases (Basel, Switzerland)2017
Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know Now.
Review in Diseases (Basel, Switzerland), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
16 citing papers in PubMed.
- Review
- Article
- Clinical management of female patients with Fabry disease based on expert consensus.Orphanet journal of rare diseases · 2025Review
- Unveiling the untreated: development of a database algorithm to identify potential Fabry disease patients in Germany.Orphanet journal of rare diseases · 2024Article
- Profiles of Globotriaosylsphingosine Analogs and Globotriaosylceramide Isoforms Accumulated in Body Fluids from Various Phenotypic Fabry Patients.Internal medicine (Tokyo, Japan) · 2024Article
- Fabry Disease in Women: Genetic Basis, Available Biomarkers, and Clinical Manifestations.Genes · 2023Review
- Mass spectrometry-based proteomics in neurodegenerative lysosomal storage disorders.Molecular omics · 2022Review
- CARS Imaging Advances Early Diagnosis of Cardiac Manifestation of Fabry Disease.International journal of molecular sciences · 2022Article
- Fabry's Disease: The Utility of a Multidisciplinary Screening Approach.Life (Basel, Switzerland) · 2022Article
- Biomarkers in Anderson-Fabry Disease.International journal of molecular sciences · 2020Review
- Improved Efficacy in a Fabry Disease Model Using a Systemic mRNA Liver Depot System as Compared to Enzyme Replacement Therapy.Molecular therapy : the journal of the American Society of Gene Therapy · 2019Article
- Lysosomal diseases: Overview on current diagnosis and treatment.Genetics and molecular biology · 2019Article
- Hot topics in Fabry disease.Postgraduate medical journal · 2018Review
- One-step synthesis of carbon-13-labeled globotriaosylsphingosine (lyso-Gb3), an internal standard for biomarker analysis of Fabry disease.Molecular genetics and metabolism · 2018Article
- Newborn Screening for Lysosomal Storage Diseases: Methodologies, Screen Positive Rates, Normalization of Datasets, Second-Tier Tests, and Post-Analysis Tools.International journal of neonatal screening · 2018Article
- Urinary Myeloid Bodies as a Biomarker for Early Diagnosis and Monitoring of Enzyme Replacement Therapy in Fabry Disease.Kidney diseases (Basel, Switzerland)Article
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder, caused by deficiency or absence of the alpha-galactosidase A activity, with a consequent glycosphingolipid accumulation. Biomarkers and imaging findings may be useful for diagnosis, identification of an organ involvement, therapy monitoring and prognosis. The aim of this article is to review the current available literature on biomarkers and imaging findings of AFD patients. An extensive bibliographic review from PubMed, Medline and Clinical Key databases was performed by a group of experts from nephrology, neurology, genetics, cardiology and internal medicine, aiming for consensus. Lyso-GB3 is a valuable biomarker to establish the diagnosis. Proteinuria and creatinine are the most valuable to detect renal damage. Troponin I and high-sensitivity assays for cardiac troponin T can identify patients with cardiac lesions, but new techniques of cardiac imaging are essential to detect incipient damage. Specific cerebrovascular imaging findings are present in AFD patients. Techniques as metabolomics and proteomics have been developed in order to find an AFD fingerprint. Lyso-GB3 is important for evaluating the pathogenic mutations and monitoring the response to treatment. Many biomarkers can detect renal, cardiac and cerebrovascular involvement, but none of these have proved to be important to monitoring the response to treatment. Imaging features are preferred in order to find cardiac and cerebrovascular compromise in AFD patients.
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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.