Rare Diseases

Current bibliography for experts

"Substrate Reduction Therapy" search results...

FABRY

Novel Golden Lipid Nanoparticles with Small Interference Ribonucleic Acid for Substrate Reduction Therapy in Fabry Disease

2023-07-12

The results of this study highlight the potential of the new siRNA-golden LNP system as a promising nanomedicine to address Fabry disease (FD) by specific SRT.

GAUCHER

Newborn screening for Gaucher disease in Japan

2022-02-18

The prevalence of Gaucher disease (GD) using newborn screening (NBS) was 1 in 77,720 in Japan, which was higher than previously estimated frequency.

GAUCHER

Clinicogenetic Profile, Treatment Modalities, and Mortality Predictors of Gaucher Disease: A 15-Year Retrospective Study

2021-04-06

If left untreated, Gaucher disease is a rare disease with a high mortality rate. Due to its one-time intervention and low cost, HSCT may be a more appropriate definitive treatment option in resource-constrained areas like India, where the neuronopathic form is more prevalent, assuming similar efficacy to ERT.

XLSD

Pharmacokinetics, Pharmacodynamics, Safety, and Tolerability of Oral Venglustat in Healthy Volunteers

2021-01-01

Phase 1 studies were conducted in healthy volunteers to determine venglustat pharmacokinetics, pharmacodynamics, safety, and tolerability. Venglustat demonstrated a favorable safety and tolerability profile.

FABRY

Developments in the treatment of Fabry disease

2020-09-01

This review summarizes what is known about present and prospective future therapy options for Fabry disease.

MPS

A basic understanding of mucopolysaccharidosis: Incidence, clinical features, diagnosis, and management

2020-02-01

Early and accurate diagnosis in the asymptomatic stage is critical for mucopolysaccharidosis (MPS) patients. This study updates details on the clinical manifestations, diagnosis, and treatment of the various types of MPS with the hopes of generating further interest in the disease.

GAUCHER

Endocrine and metabolic disorders in patients with Gaucher disease type 1: A review

2019-12-02

Gaucher disease (GD) is associated to a variety of hormonal and metabolic abnormalities, like nutritional problems, glucose metabolism disorders, and vitamin D deficiency. In order to improve healthcare for GD1 patients, it is necessary to actively search for and diagnose endocrine and metabolic disorders.

News and Events

ASHG 2025

The ASHG (American Society of Human Genetics) 2025 Annual Meeting will be held in Boston from October 14-18. The meeting...

ESHG - Avrupa İnsan Genetiği Konferansı 2025

The annual ESHG 2025, European Conference on Human Genetics, will be held in Milan, Italy between 24-27 May 2024. Organi...

World Orphan Drug Congress 2025

World Orphan Drug Congress USA, one of the most important orphan drug and rare disease congresses, will be held in Bosto...

All News

Gene2info provides genetic diagnoce service for 23 of rare diseases

Gene2info has an end-to-end service solution for rapid diagnosis of rare diseases via genetic testing. The solution cove...