ArticlePloS one2017
Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- Fabry disease cardiomyopathy: A state-of-the-art review.Progress in cardiovascular diseasesPooled it
- Automated quantification of skin Gb3 load and white matter lesion assessment in Fabry disease.Orphanet journal of rare diseases · 2026Article
- Key considerations for measuring α-galactosidase A activity after long-term migalastat therapy-Avoiding in vitro inhibition effects.Molecular genetics and metabolism reports · 2026Article
- Neurological management and outcome measures in Fabry disease: consensus statements from the Italian Fabry disease neurological working group.Orphanet journal of rare diseases · 2026Article
- The Role of Kidney Biopsy in Fabry Disease.Biomedicines · 2025Review
- The importance of a multidisciplinary approach in two tricky cases: the perfect match for Fabry disease.BMC nephrology · 2025Article
- Fabry disease: a rare disorder calling for personalized medicine.International urology and nephrology · 2024Review
- In vivo demonstration of globotriaosylceramide brain accumulation in Fabry Disease using MR Relaxometry.Neuroradiology · 2024Article
- Review
- Fabry disease in W162C mutation: a case report of two patients and a review of literature.BMC neurology · 2024Review
- Age-related neuroimmune signatures in dorsal root ganglia of a Fabry disease mouse model.Immunity & ageing : I & A · 2023Article
- Case report:Frontiers in genetics · 2023Article
- Late-onset Fabry disease due to a new (p.Pro380Leu) pathogenic variant of GLA Gene.Metabolic brain disease · 2022Article
- Endocrine disorders in patients with Fabry disease: insights from a reference centre prospective study.Endocrine · 2022Observational
- Chaperone Therapy in Fabry Disease.International journal of molecular sciences · 2022Review
- Review of Mechanisms, Pharmacological Management, Psychosocial Implications, and Holistic Treatment of Pain in Fabry Disease.Journal of clinical medicine · 2021Review
- Fabry Cardiomyopathy: Current Treatment and Future Options.Journal of clinical medicine · 2021Review
- The GALA project: practical recommendations for the use of migalastat in clinical practice on the basis of a structured survey among Italian experts.Orphanet journal of rare diseases · 2020Article
- Diagnosis and Screening of Patients with Fabry Disease.Therapeutics and clinical risk management · 2020Review
- Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype- phenotype correlations.The application of clinical genetics · 2019Review
Corrections and comments
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Authors and funding
16 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFabry Disease (FD) is characterized by globotriaosylceramide-3 (Gb3) accumulation in several tissues and a small fibre neuropathy (SFN), however the underlying mechanisms are poorly known. This study aimed to: 1) ascertain the presence of Gb3 deposits in skin samples, by an immunofluorescence method collected from FD patients with classical GLA mutations or late-onset FD variants or GLA polymorphisms; 2) correlate skin GB3 deposits with skin innervation.
methodswe studied 52 genetically-defined FD patients (32 with classical GLA mutations and 20 with late-onset variants or GLA polymorphisms), 15 patients with SFN associated with a specific cause and 22 healthy controls. Subjects underwent skin biopsy to evaluate Gb3 deposits and epi-dermal innervation.
resultsSkin Gb3 deposits were found in all FD patients with classical GLA mutations but never in FD patients with late-onset variants or GLA polymorphisms or in patients with SFN and healthy controls. Abnormal deposits were found inside different skin structures but never inside axons. FD patients with GB3 deposits showed lower skin innervation than FD patients with late-onset variants or polymorphisms.
conclusions1) Skin Gb3 deposits are specific to FD patients with classical GLA mutations; 2) Gb3 deposits were associated with lower skin innervation but they were not found inside axons, suggesting an indirect damage on peripheral small fibre innervation.
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