Rare Diseases

Current bibliography for experts

" Early Diagnosis" search results...

MPS

A Novel Missense Mutation (c.965C>T, p.Ala322Val) in the GALNS Gene: A Severe MPS IVA Case

2025-02-01

A newly identified c.965C>T (p.Ala322Val) missense mutation in the GALNS gene has been associated with the severe form of Morquio syndrome (MPS IVA); the diagnosis was confirmed in a 3-year-old patient with skeletal abnormalities through whole exome sequencing, and early enzyme replacement therapy has been recommended to slow disease progression.

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.

CTX

Case report: Cerebrotendinous xanthomatosis with a novel mutation in the CYP27A1 gene mimicking behavioral variant frontotemporal dementia

2023-03-07

This report discusses the case of a middle-aged Cerebrotendinous Xanthomatosis (CTX) patient with an unusual phenotype of behavioral variant frontotemporal dementia (bvFTD).

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.

CTX

A case of cerebrotendinous xanthomatosis with brain and spinal involvement without tendon xanthomas: Identification of a novel mutation of the CYP27A1 gene

2022-05-01

This case report emphasizes the necessity of keeping a high index of suspicion as the key to a timely diagnosis of cerebrotendinous xanthomatosis (CTX), which has a clinical diversity and, if detected early, the favorable treatment response.

GAUCHER

A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation

2022-04-01

Early diagnosis is essential for Gaucher disease and prenatal diagnosis makes genetic counselling possible for future pregnancies.

POMPE

Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment

2022-03-09

Careful evaluation of common pediatric presentations, which may be an indication of serious underlying pathologies, is of great importance.

MPS

The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy

2021-11-01

The findings of this study indicate the need for novel treatment methods that target the skeletal system in affected patients.

ALFA-MANNOSIDOZ

Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment

2021-10-06

This article presents the clinical and genetic study of six patients from two Tunisian families with alpha-mannosidosis.

FABRY

Prompt Agalsidase Alfa Therapy Initiation is Associated with Improved Renal and Cardiovascular Outcomes in a Fabry Outcome Survey Analysis

2021-08-16

This analysis suggests that prompt treatment initiation with agalsidase alfa provided better renal and cardiovascular outcomes than delayed treatment in patients with Fabry disease.

GAUCHER

Clinical Characteristics, Molecular Background, and Survival of Egyptian Patients With Gaucher Disease Over a 20-Year Follow-up

2021-07-23

Early age at diagnosis and treatment with ERT over 20 years revealed significant improvements in disease manifestations, with an overall survival of 73.3%.

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.

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