Fucosidosis Latest Advances

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.

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.

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.

Journal: The Turkish journal of pediatrics

Published: March 07, 2025

Fucosidosis: A Review of a Rare Disease.

Journal: International journal of molecular sciences

Published: December 08, 2024

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.

Journal: Molecular genetics & genomic medicine

Published: May 26, 2024

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.

Journal: Indian journal of pediatrics

Published: November 30, 2023

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.

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.

Journal: Clinical dysmorphology

Published: March 06, 2023

Fucosidosis Latest Advances

Find the Latest Research About Fucosidosis

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.

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.

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.

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.

Fucosidosis: A Review of a Rare Disease.

Fucosidosis: A Review of a Rare Disease.

Lysosomal storage diseases.

Lysosomal storage diseases.

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.

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.

Magnetic Resonance Imaging Pattern Recognition in Fucosidosis.

Magnetic Resonance Imaging Pattern Recognition in Fucosidosis.

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.

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.

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.