Rare Diseases

Current bibliography for experts

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GAUCHER DISEASE

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

2024-08-06

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

2022-09-01

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

2022-08-01

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

2022-06-20

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

2022-02-22

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.

XLH

Identification of a Novel Missense Mutation of the PHEX Gene in a Large Chinese Family with X-Linked Hypophosphataemia

2022-02-17

This study's genetic and functional investigations revealed a novel genetic cause of XLH: The heterozygous mutation of PHEX (NM 000444.5: c.1768G > A).

NIEMANN-PICK

Clinical disease characteristics of patients with NiemannPick Disease Type C

2022-02-14

The collection of on-going large-scale Niemann-Pick Disease Type C (NPC) clinical data may generate better understandings of the natural history of the disease. This study reports NPC patient data from the International Niemann-Pick Disease Registry (INPDR).

NIEMANN-PICK

Niemann-Pick Disease Type A: A Rare Disease With a Fatal Outcome

2022-02-06

This article reports the case of a seven-month-old male infant who presented to the emergency department with continuous fever for one week, poor feeding, and failure to thrive

FABRY

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

2021-08-22

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

2021-08-01

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.

FABRY

The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

2021-04-09

In this review, the problems faced in the family genetic screening of patients affected with rare genetic diseases are highlighted by an international group of experts of Fabry disease. These problems include related costs, low awareness of its importance, cultural and societal issues, educational levels of the population, national geography and infrastructure, and a lack of medical geneticists.

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.

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