Mucopolysaccharidoses (MPS) Latest Advances

Find the Latest Research About Mucopolysaccharidoses (MPS)

Last Updated: 06/30/2026

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Found 3795 publications

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

RPE Abnormality Is a Potential Primary Cause for Retinal Degeneration in Mucopolysaccharidosis Type VI Patients and a Rat Model.

RPE Abnormality Is a Potential Primary Cause for Retinal Degeneration in Mucopolysaccharidosis Type VI Patients and a Rat Model.

Journal: Investigative ophthalmology & visual science
Published: May 18, 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

Newborn Screening and Early Cord Blood Transplant for Mucopolysaccharidosis.

Newborn Screening and Early Cord Blood Transplant for Mucopolysaccharidosis.

Journal: JAMA network open
Published: May 04, 2026

Mucopolysaccharidosis Type VI Related Retinopathy.

Mucopolysaccharidosis Type VI Related Retinopathy.

Journal: Ophthalmology. Retina
Published: April 24, 2026

Long-term Natural History and Elosulfase Alfa Treatment for Mucopolysaccharidosis Type IVA: A Single-Center Study in the Czech Republic.

Long-term Natural History and Elosulfase Alfa Treatment for Mucopolysaccharidosis Type IVA: A Single-Center Study in the Czech Republic.

Journal: Research square
Published: April 03, 2026

The silent threat in mucopolysaccharidosis: assessment of sleep quality and disorders.

The silent threat in mucopolysaccharidosis: assessment of sleep quality and disorders.

Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: March 19, 2026

Author Correction: TFEB, FOXO3 and TLR4 in resveratrol-induced autophagy in a mucopolysaccharidosis IIIB mouse model.

Author Correction: TFEB, FOXO3 and TLR4 in resveratrol-induced autophagy in a mucopolysaccharidosis IIIB mouse model.

Journal: Experimental & molecular medicine
Published: March 18, 2026

Clinical and Molecular Characterization of Pakistani Mucopolysaccharidosis Families with SGSH and GALNS Deficiencies.

Clinical and Molecular Characterization of Pakistani Mucopolysaccharidosis Families with SGSH and GALNS Deficiencies.

Journal: Genes
Published: March 16, 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

Chronic myeloid leukaemia in a child with mucopolysaccharidosis type VI: diagnostic and management challenges.

Chronic myeloid leukaemia in a child with mucopolysaccharidosis type VI: diagnostic and management challenges.

Journal: BMJ case reports
Published: February 25, 2026
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Last Updated: 06/30/2026