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

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.

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.

Journal: Cureus

Published: May 14, 2026

Neuroepithelial Tumor with AAV Integration after Intracisternal Magna Vector Delivery.

Journal: The New England journal of medicine

Published: May 13, 2026

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.

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.

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.

Journal: Frontiers in medicine

Published: February 18, 2026

First-in-human intracisternal dosing of RGX-111 in severe MPS I is well tolerated and generates sustained neurodevelopment without HSCT.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: February 10, 2026

Carpal tunnel syndrome in mucopolysaccharidosis type I: clinical, surgical and histopathological findings.

Journal: The Journal of hand surgery, European volume

Published: February 09, 2026

Carpal tunnel syndrome in mucopolysaccharidosis type I: clinical, surgical and histopathological findings.

Journal: The Journal of hand surgery, European volume

Published: February 09, 2026

Oral nanoparticle-encapsulated enzyme replacement therapy for mucopolysaccharidosis type I (MPS-I): a proof of concept study.

Journal: Drug delivery and translational research

Published: February 06, 2026

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

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

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.

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.

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.

Neuroepithelial Tumor with AAV Integration after Intracisternal Magna Vector Delivery.

Neuroepithelial Tumor with AAV Integration after Intracisternal Magna Vector Delivery.

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

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

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.

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.

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.

First-in-human intracisternal dosing of RGX-111 in severe MPS I is well tolerated and generates sustained neurodevelopment without HSCT.

First-in-human intracisternal dosing of RGX-111 in severe MPS I is well tolerated and generates sustained neurodevelopment without HSCT.

Carpal tunnel syndrome in mucopolysaccharidosis type I: clinical, surgical and histopathological findings.

Carpal tunnel syndrome in mucopolysaccharidosis type I: clinical, surgical and histopathological findings.

Carpal tunnel syndrome in mucopolysaccharidosis type I: clinical, surgical and histopathological findings.

Carpal tunnel syndrome in mucopolysaccharidosis type I: clinical, surgical and histopathological findings.

Oral nanoparticle-encapsulated enzyme replacement therapy for mucopolysaccharidosis type I (MPS-I): a proof of concept study.

Oral nanoparticle-encapsulated enzyme replacement therapy for mucopolysaccharidosis type I (MPS-I): a proof of concept study.