Fucosidosis Latest Advances

Find the Latest Research About Fucosidosis

Last Updated: 02/24/2026

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Found 363 publications

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

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

Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family.

Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family.

Journal: Clinical dysmorphology
Published: March 06, 2023

Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.

Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.

Journal: Journal of inherited metabolic disease
Published: November 16, 2022
Showing 1-12 of 363

Last Updated: 02/24/2026