Rare Diseases

Current bibliography for experts

"Genetics" search results...

FABRY

Prevalence of Fabry disease-causing variants in the UK Biobank

2023-04-01

The aim of this study is to determine the prevalence of Fabry disease-causing variants in UK Biobank.

FABRY

Dysregulated DNA methylation in the pathogenesis of Fabry disease

2022-09-26

This study provides evidence that α-galactosidase A deficiency and glycosphingolipid storage may affect DNA methylation homeostasis and highlights the importance of epigenetics in the pathogenesis of Fabry disease.

MPS

Alpha-L-iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis

2022-05-27

A variant in the form of IDUA gene deletion may indicate an early severe phenotypic presentation of Mucopolysaccharidosis type I (MPS I).

FABRY

Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease

2022-04-01

A panel of Fabry disease (FD) specialists convened to study how expertise may compare with the traditional approach.

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

LIPODISTROFI

Molecular and Cellular Bases of Lipodystrophy Syndromes

2022-01-03

In this study, the links between lipodystrophy and premature ageing and/or immuno-inflammatory aggressions of adipose tissue, as well as the relationships between lipomatosis and lipodystrophy are discussed.

CLN2

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis

2021-09-01

This study supports comprehensive genetic testing for patients whose first seizure occurs ≥ 24 months of age. It also supports early application of testing in this age group, as the identified diagnoses can have significant impact on patient management and outcome.

FABRY

DNA methylation impact on Fabry disease

2021-02-02

Methylation analyses of GLA gene may provide epigenetic signatures to predict whether pre-symptomatic female carriers will develop symptoms thus helping timely interventions.

POMPE

Pompe disease: Pathogenesis, molecular genetics and diagnosis

2020-08-03

Early detection is critical for preventing or reducing the permanent organ damage that comes with Pompe disease (PD) progression. Pathogenesis, clinical phenotypes, molecular genetics, diagnosis and treatments about PD are covered in this article.

FABRY

A consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup

2020-08-01

This study aimed to find a consensus phenotypic classification for previously unclassified GLA variants by using the GLA-specific fabry-database.org database. Clinical pathogenicity associated with a particular GLA variant defined in affected males appears to have predictive value and also generally correlates with risk for affected females. The newly developed classifications can aid in the clinical management of Fabry patients who have these variants.

FABRY

Diagnosis and Screening of Patients with Fabry Disease

2020-06-22

The aim of this review was to provide an update on diagnosis and screening of patients with Fabry disease (FD).

FABRY

Fabry disease: Genetics, pathology, and treatment

2020-01-13

Genetic analysis in search of mutation for Fabry Disease is the gold standard for diagnosis, in addition to family history. It is considered that specialized treatment should begin as soon as a diagnosis is made, as this can change the disease prognosis.

News and Events

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