Rare Diseases

Current bibliography for experts

"Lsd" search results...

XLSD

Pilot study of newborn screening for six lysosomal diseases in Brazil

2023-07-13

This study indicates that the use of enzyme assay as the first-tier test gives an acceptably low number of positive results that requires second/third tier testing.

MPS

Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing

2023-04-05

The aim of the present study was to identify novel genes and pathogenic variants in families from diverse regions of Pakistan with clinically diagnosed mucopolysaccharidosis type I and mucopolysaccharidosis type II.

FABRY

An Overview of Molecular Mechanisms in Fabry Disease Biomolecules.

2022-10-12

This review provides an overview of the main features of FD, focusing on its molecular mechanism and the role of biomarkers.

POMPE

Development of a clinically validated in vitro functional assay to assess the pathogenicity of novel GAA variants in patients with Pompe disease

2022-09-30

There is an unmet need for validated functional studies to aid in classification of GAA variants.

GAUCHER

Real-world patient data on immunity and COVID-19 status of patients with MPS, Gaucher, and Pompe diseases from Turkey

2022-08-29

It should be borne in mind that cardiac and pulmonary involvement, as well as immune dysfunction in LSDs, may cause an increased need for intensive care because of secondary bacterial infections.

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.

ALFA-MANNOSIDOZ

Mortality in patients with alpha-mannosidosis: A review of patients' data and the literature

2022-07-23

This study aimed to investigate the age at death and the causes of death of patients with alpha-mannosidosis who had not received disease-modifying treatment.

FABRY

Multidisciplinary Management of Fabry Disease: Current Perspectives

2022-03-10

This review aims to describe the clinical features and the current perspectives in the multidisciplinary management of Fabry disease (FD) patients.

XLH

Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH)

2022-02-01

To centralize and disseminate PHEX variant information, a new PHEX gene locus-specific database, PHEX LSDB, has been established.

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.

GAUCHER

Interstitial lung disease in lysosomal storage disorders

2021-04-29

Early diagnosis for lysosomal storage diseases (LSDs) is crucial to prevent irreversible organ damage. Early initiation of enzyme replacement therapy (ERT) can, at least in part, prevent organ failure.

XLSD

Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants

2021-01-27

The study's goal was to determine the prevalence of the three treatable types of lysosomal storage disorders (Gaucher disease [GD], Pompe disease [PD], and Fabry disease [FD]) in a cohort of primarily urban-dwelling Africans, a previously unexplored genetic environment for LSDs.

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