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Last Updated: 10/31/2025

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Found 1436 publications

Management of Neuropsychiatric Symptoms Associated With Morquio Syndrome.

Management of Neuropsychiatric Symptoms Associated With Morquio Syndrome.

Journal: The primary care companion for CNS disorders
Published: October 01, 2025

Mucopolysaccharidosis type IVA and severe hidradenitis suppurativa: A case series.

Mucopolysaccharidosis type IVA and severe hidradenitis suppurativa: A case series.

Journal: JAAD case reports
Published: August 08, 2025

Neuraminidase 1 secondary deficiency contributes to CNS pathology in neurological mucopolysaccharidoses via brain proteins hypersialylation.

Neuraminidase 1 secondary deficiency contributes to CNS pathology in neurological mucopolysaccharidoses via brain proteins hypersialylation.

Journal: The Journal of clinical investigation
Published: June 20, 2025

Case report: Successful treatment of a patient presenting with a very rare association of acute lymphoblastic leukemia and mucopolysaccharidosis type IVA.

Case report: Successful treatment of a patient presenting with a very rare association of acute lymphoblastic leukemia and mucopolysaccharidosis type IVA.

Journal: Frontiers in pediatrics
Published: June 10, 2025

Integrase-Deficient Lentiviral Vector as a Platform for Efficient CRISPR/Cas9-Mediated Gene Editing for Mucopolysaccharidosis IVA.

Integrase-Deficient Lentiviral Vector as a Platform for Efficient CRISPR/Cas9-Mediated Gene Editing for Mucopolysaccharidosis IVA.

Journal: International journal of molecular sciences
Published: June 05, 2025

Recent advances in mucopolysaccharidosis IVA treatment.

Recent advances in mucopolysaccharidosis IVA treatment.

Journal: Orphanet journal of rare diseases
Published: June 05, 2025

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

Imaging hallmarks of mucopolysaccharidosis in a young Ethiopian boy: A case report.

Imaging hallmarks of mucopolysaccharidosis in a young Ethiopian boy: A case report.

Journal: Radiology case reports
Published: April 29, 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
Showing 1-12 of 1,436

Last Updated: 10/31/2025