Fucosidosis Latest Advances

Find the Latest Research About Fucosidosis

Last Updated: 06/30/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 365 publications

Glycoproteinoses: Clinical features, therapeutic landscape, and regulatory pathways in rare lysosomal disorders.

Glycoproteinoses: Clinical features, therapeutic landscape, and regulatory pathways in rare lysosomal disorders.

Journal: Molecular genetics and metabolism
Published: February 06, 2026

Recombinant Production and Characterization of a Novel α-L-Fucosidase from Bifidobacterium castoris.

Recombinant Production and Characterization of a Novel α-L-Fucosidase from Bifidobacterium castoris.

Journal: International journal of molecular sciences
Published: August 30, 2025

Recovery of α-L-fucosidase in fucosidosis nonsense variants by readthrough stimulation and release factor degradation.

Recovery of α-L-fucosidase in fucosidosis nonsense variants by readthrough stimulation and release factor degradation.

Journal: Disease models & mechanisms
Published: May 22, 2025

Deciphering α-L-Fucosidase Activity Contribution in Human and Mouse: Tissue α-L-Fucosidase FUCA1 Meets Plasma α-L-Fucosidase FUCA2.

Deciphering α-L-Fucosidase Activity Contribution in Human and Mouse: Tissue α-L-Fucosidase FUCA1 Meets Plasma α-L-Fucosidase FUCA2.

Journal: Cells
Published: April 13, 2025

Novel FUCA1 variants in two families, including the first report of a contiguous gene deletion syndrome involving FUCA1 and HMGCL.

Novel FUCA1 variants in two families, including the first report of a contiguous gene deletion syndrome involving FUCA1 and HMGCL.

Journal: The Turkish journal of pediatrics
Published: March 07, 2025

Fucosidosis: A Review of a Rare Disease.

Fucosidosis: A Review of a Rare Disease.

Journal: International journal of molecular sciences
Published: December 08, 2024

Lysosomal storage diseases.

Lysosomal storage diseases.

Journal: Handbook of clinical neurology
Published: September 25, 2024

Early Severe Cortical Involvement and Novel FUCA1 Mutations in a Pediatric Fucosidosis Case.

Early Severe Cortical Involvement and Novel FUCA1 Mutations in a Pediatric Fucosidosis Case.

Journal: Molecular genetics & genomic medicine
Published: May 26, 2024

Magnetic resonance imaging pattern recognition of metabolic and neurodegenerative encephalopathies in dogs and cats.

Magnetic resonance imaging pattern recognition of metabolic and neurodegenerative encephalopathies in dogs and cats.

Journal: Frontiers in veterinary science
Published: February 24, 2024

Magnetic Resonance Imaging Pattern Recognition in Fucosidosis.

Magnetic Resonance Imaging Pattern Recognition in Fucosidosis.

Journal: Indian journal of pediatrics
Published: November 30, 2023

Long-term outcomes in two adult siblings with Fucosidosis - Diagnostic odyssey and clinical manifestations.

Long-term outcomes in two adult siblings with Fucosidosis - Diagnostic odyssey and clinical manifestations.

Journal: Molecular genetics and metabolism reports
Published: July 20, 2023

Genotype first approach & familial segregation analysis help in the elucidation of disease-causing variant for fucosidosis.

Genotype first approach & familial segregation analysis help in the elucidation of disease-causing variant for fucosidosis.

Journal: The Indian journal of medical research
Published: June 07, 2023
Showing 1-12 of 365

Last Updated: 06/30/2026