ArticleMetabolic brain disease2017
Brain abnormalities in fucosidosis: transplantation or supportive therapy?
Article in Metabolic brain disease, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 28 citations in OpenAlex.
- Case Report: A rare case of fucosidosis caused by a novel homozygous pathogenic variant in the FUCA1 gene within a 17.2 Mb region of homozygosity.Frontiers in medicine · 2026Article
- Early Severe Cortical Involvement and Novel FUCA1 Mutations in a Pediatric Fucosidosis Case.Molecular genetics & genomic medicine · 2025Article
- Fucosidosis: A Review of a Rare Disease.International journal of molecular sciences · 2025Review
- Changes of peripheral blood α-L-fucosidase activity in patients with rheumatoid arthritis: a cross-sectional study.Annals of joint · 2024Article
- Long-term outcomes in two adult siblings with Fucosidosis - Diagnostic odyssey and clinical manifestations.Molecular genetics and metabolism reports · 2023Article
- An unusual presentation of fucosidosis in a Chinese boy: a case report and literature review (childhood fucosidosis).BMC pediatrics · 2022Review
- Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app.Orphanet journal of rare diseases · 2021Review
- Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series.Genes · 2020Review
- Review
- Fucosidosis in a Chinese boy: a case report and literature review.The Journal of international medical research · 2020Review
- Article
- Lysosomal diseases: Overview on current diagnosis and treatment.Genetics and molecular biology · 2019Article
- Neuroregression, coarse features, and oligosaccharides in urines.Neurosciences (Riyadh, Saudi Arabia) · 2017Article
- Plasma alpha-L-fucosidase activity in chronic inflammation and autoimmune disorders in a pediatric cohort of hospitalized patients.Immunologic research · 2017Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fucosidosis is a rare lysosomal storage disease caused by α-fucosidase deficiency, which leads to progressive neurological deterioration and death. Hematopoietic stem cell transplantation is the best curative therapy if performed during the early stages of disease. We report two fucosidosis patients with brain abnormalities and the challenge faced in their management. The first patient received supportive therapy and the second one firstly underwent unrelated donor umbilical cord blood transplantation. After a period of follow-up, we found neurological symptoms were worsening day by day on patient1. By contrast, patient2 who received cord blood transplantation acquired clinical neurologic improvement in response to normalization of deficient enzymatic activity. This report indicates that hematopoietic transplant could reduce the severity and retard the progression of clinical neurological deterioration. Umbilical cord blood transplantation is a novel approach for treating fucosidosis patients who lack suitable bone morrow donors.
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