Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome) Latest Advances

Find the Latest Research About Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome)

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 2217 publications

Fatal Pulmonary Air Emboli Associated with Pneumatosis Intestinalis.

Fatal Pulmonary Air Emboli Associated with Pneumatosis Intestinalis.

Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: July 19, 2026

Mucopolysaccharidosis type I with retinal degeneration and absence of corneal involvement in the eighth decade of life.

Mucopolysaccharidosis type I with retinal degeneration and absence of corneal involvement in the eighth decade of life.

Journal: Ophthalmic genetics
Published: June 05, 2026

Homozygous R383H variant in IDUA gene causing pericentric retinitis pigmentosa in attenuated mucopolysaccharidosis type I.

Homozygous R383H variant in IDUA gene causing pericentric retinitis pigmentosa in attenuated mucopolysaccharidosis type I.

Journal: Ophthalmic genetics
Published: May 20, 2026

A Rare Case of Mucopolysaccharidosis Presenting With Dysostosis Multiplex and Preserved Intelligence in a Seven-Year-Old Girl From Northeast India.

A Rare Case of Mucopolysaccharidosis Presenting With Dysostosis Multiplex and Preserved Intelligence in a Seven-Year-Old Girl From Northeast India.

Journal: Cureus
Published: May 14, 2026

Neuroepithelial Tumor with AAV Integration after Intracisternal Magna Vector Delivery.

Neuroepithelial Tumor with AAV Integration after Intracisternal Magna Vector Delivery.

Journal: The New England journal of medicine
Published: May 13, 2026

Unmasking Mucopolysaccharidosis Type I in a Patient With Wolf-Hirschhorn Syndrome: Diagnostic Overshadowing.

Unmasking Mucopolysaccharidosis Type I in a Patient With Wolf-Hirschhorn Syndrome: Diagnostic Overshadowing.

Journal: JIMD reports
Published: April 29, 2026

Disruptions in speech, language and social communication in lysosomal storage diseases.

Disruptions in speech, language and social communication in lysosomal storage diseases.

Journal: Neuroscience and biobehavioral reviews
Published: April 27, 2026

Development of Dried Blood Spot Proficiency Testing Materials for Newborn Screening of Lysosomal Diseases Using Recombinant Enzymes.

Development of Dried Blood Spot Proficiency Testing Materials for Newborn Screening of Lysosomal Diseases Using Recombinant Enzymes.

Journal: International journal of neonatal screening
Published: April 10, 2026

Lipid Nanoparticle-Delivered mRNA Therapy Corrects Neonatal Murine MPS I-H.

Lipid Nanoparticle-Delivered mRNA Therapy Corrects Neonatal Murine MPS I-H.

Journal: Human gene therapy
Published: March 26, 2026

Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panel.

Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panel.

Journal: Molecular genetics and metabolism
Published: February 26, 2026

Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden.

Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden.

Journal: Molecular genetics and metabolism
Published: February 20, 2026

RNA activation as a precision dosing modality: MTL-CEBPA for controlled enzyme elevation in MPS I-H.

RNA activation as a precision dosing modality: MTL-CEBPA for controlled enzyme elevation in MPS I-H.

Journal: Frontiers in medicine
Published: February 18, 2026
Showing 1-12 of 2,217

Last Updated: 09/26/2026