"Hurler Syndrome" search results...

Excised corneas of MPS I patients show characteristic epithelial changes, disruption or breaks in Bowman's membrane, and amphophilic collections of stromal granular mucopolysaccharides. These changes should alert the pathologist to the possibility of an underlying lysosomal storage disorder.

MPS

Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement

2021-01-29

There are two types of the Mucopolysaccharidosis type I (MPS I) disease: severe form (Hurler syndrome) and attenuated form (Hurler-Scheie, Scheie). Current treatments can partially prevent, but not significantly improve, clinical manifestations, necessitating early diagnosis of disease and commencement of treatment.

MPS

Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment

2020-02-13

This review summarizes the history of Mucopolysaccharidosis type II (MPS II, Hunter syndrome) through clinical and laboratory evaluations that allowed its correct diagnosis, pathogenesis, and therapeutic protocols. The main issues are also highlighted related to the possible newborn screenings for MPS II, brain pathogenesis, and treatment of the neurological compartment.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

MPS

Mucopolysaccharidosis Type I-Associated Corneal Disease: A Clinicopathologic Study

MPS

Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement

MPS

Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment

News and Events

ASHG 2025

ESHG - Avrupa İnsan Genetiği Konferansı 2025

World Orphan Drug Congress 2025

Gene2info provides genetic diagnoce service for 23 of rare diseases