Filters

Term Search
You can select from the dropdown list OR enter your own terms to refine the search.

Last Updated: 06/27/2025

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 1424 publications

Mucopolysaccharidosis type IVA (Morquio A) in twins masquerading as distal renal tubular acidosis.

Mucopolysaccharidosis type IVA (Morquio A) in twins masquerading as distal renal tubular acidosis.

Journal: BMJ case reports
Published: May 23, 2025

Description of ocular pathologies in patients with mucopolisacaridosis type iva (Morquio) in medellin, Colombia.

Description of ocular pathologies in patients with mucopolisacaridosis type iva (Morquio) in medellin, Colombia.

Journal: Ophthalmic genetics
Published: May 14, 2025

A Rare Case of Morquio Syndrome in Palestine: Clinical, Radiological, and Genetic Insights.

A Rare Case of Morquio Syndrome in Palestine: Clinical, Radiological, and Genetic Insights.

Journal: Cureus
Published: April 20, 2025

Generation of a cellular model for mucopolysaccharidosis type IVA (MPS IVA) (AOUMEYi003-A) from a patient carrying compound heterozygous mutations p.G116V and p.G290S in the GALNS gene.

Generation of a cellular model for mucopolysaccharidosis type IVA (MPS IVA) (AOUMEYi003-A) from a patient carrying compound heterozygous mutations p.G116V and p.G290S in the GALNS gene.

Journal: Stem cell research
Published: April 18, 2025

Identification of Surrogate Biomarkers for Mucopolysaccharidosis Type IVA.

Identification of Surrogate Biomarkers for Mucopolysaccharidosis Type IVA.

Journal: International journal of molecular sciences
Published: April 18, 2025

Exploring Multivalent Architectures for Binding and Stabilization of N-Acetylgalactosamine 6-Sulfatase.

Exploring Multivalent Architectures for Binding and Stabilization of N-Acetylgalactosamine 6-Sulfatase.

Journal: Molecules (Basel, Switzerland)
Published: March 31, 2025

CRISPR/nCas9-Edited CD34+ Cells Rescue Mucopolysaccharidosis IVA Fibroblasts Phenotype.

CRISPR/nCas9-Edited CD34+ Cells Rescue Mucopolysaccharidosis IVA Fibroblasts Phenotype.

Journal: International journal of molecular sciences
Published: March 19, 2025

Assessment of different promoters in lentiviral vectors for expression of the N-acetyl-galactosamine-6-sulfate sulfatase gene.

Assessment of different promoters in lentiviral vectors for expression of the N-acetyl-galactosamine-6-sulfate sulfatase gene.

Journal: Journal of human genetics
Published: March 13, 2025

Systematic Analysis of Multiple Imaging Modalities in Infants Diagnosed with Mucopolysaccharidosis by Newborn Screening.

Systematic Analysis of Multiple Imaging Modalities in Infants Diagnosed with Mucopolysaccharidosis by Newborn Screening.

Journal: Diagnostics (Basel, Switzerland)
Published: February 18, 2025

Health-Related Quality of Life of Individuals with Physical Disabilities in Childhood.

Health-Related Quality of Life of Individuals with Physical Disabilities in Childhood.

Journal: Children (Basel, Switzerland)
Published: February 18, 2025

Clinically relevant pseudoexons of the GALNS gene and their antisense-based correction.

Clinically relevant pseudoexons of the GALNS gene and their antisense-based correction.

Journal: Molecular medicine (Cambridge, Mass.)
Published: February 09, 2025

Clinical and genetic spectrums of Mucopolysaccharidosis type IV in Duhok city, Kurdistan region, Iraq.

Clinical and genetic spectrums of Mucopolysaccharidosis type IV in Duhok city, Kurdistan region, Iraq.

Journal: Cellular and molecular biology (Noisy-le-Grand, France)
Published: January 30, 2025
Showing 1-12 of 1,424

Last Updated: 06/27/2025