GAUCHER DISEASE

Machine Learning-Driven Biomarker Discovery for Skeletal Complications in Type 1 Gaucher Disease Patients

This study aims to identify protein biomarkers for the early detection of skeletal complications in patients with Type 1 Gaucher disease using machine learning. The research identified 18 potential biomarkers, emphasizing that some of these can be measured through blood tests. The goal is to develop new tools for clinical decision support systems using machine learning and systems biology techniques.

FABRY

The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients

This is the first study to have described family screening in a large Russian cohort of patients with FD and chronic kidney disease.

GAUCHER

Lysosomal functions and dysfunctions: Molecular and cellular mechanisms underlying Gaucher disease and its association with Parkinson disease

he present review will elaborate on the biology of Gaucher disease (GD), its association with Parkinson's disease (PD) and related disorders, and discuss the possible mechanisms underlying this association.

FABRY

Twenty years of the Fabry Outcome Survey (FOS): Insights, achievements, and lessons learned from a global patient registry

This study reviews the history of the Fabry Outcome Survey (FOS) and the analyses and publications disseminated from the registry, and discusses the contributions FOS studies have made in understanding Fabry Disease (FD).

MPS

Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: A mixed methods approach

This study demonstrates the unique potential of mixed methods research in rare diseases to address some of the current limitations of more traditional quantitative approaches by providing an individualized, detailed understanding of the patient experience.

FABRY

Value of Left Ventricular Feature Tracking Strain Analysis for Detection of Early Cardiac Involvement in Fabry Disease (FD)

According to the findings of this study, strain abnormalities occur early beside native T1 reductions in cardiac FD involvement.

LIZOZOMAL DEPO HASTALIKLARI

The usage of enzyme replacement treatments, economic burden, and quality of life of patients with four lysosomal storage diseases in Shanghai, China

The scope of drug reimbursement list and the reimbursement level should be further expanded and raised to help improve the living conditions of patients with LSDs.

GAUCHER

Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York

The aim of this study was to evaluate the determinants of SARS CoV-2 infection in Gaucher disease (GD) patients. The findings indicated that, despite the chronic inflammatory state in these patients, GD does not increase the risk of serious effects of SARS-CoV-2 infection.

NADIR HASTALIKLAR

Rare diseases