Rare Diseases

Current bibliography for experts

"Mortality" search results...

POMPE

Newborn screening for Pompe disease in Italy: Long-term results and future challenges

2022-10-22

This study presents the results from 7 years of newborn screening (NBS) for Pompe disease (PD) and the management of infantile-onset (IOPD) and late-onset (LOPD) patients.

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

COVID-19 in Fabry disease: A reference center prospective study

2022-06-28

In this study, it was investigated whether coronavirus infection poses a particular risk for Fabry patients.

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

Progression of Cardiovascular Manifestations in Adults and Children With Mucopolysaccharidoses With and Without Enzyme Replacement Therapy

2022-01-01

Adult patients with MPS may develop severe cardiovascular involvement, and clinicians should be aware of the need for careful monitoring and timely management of those potentially life-threatening complications.

POMPE

To detect potential pathways and target genes in infantile Pompe patients using computational analysis Bioimpacts

2022-01-01

In this study, the determination of key genes involved in the response to ERT for Pompe disease and potential molecular mechanisms were investigated.

GAUCHER

No association of Gaucher Disease with COVID-19-related outcomes: A nationwide cohort study

2021-12-23

According to our national data, SARS-CoV-2 infection in patients with Gaucher disease does not have a more severe course than the normal population.

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%.

LIPODISTROFI

Effect of Leptin Therapy on Survival in Generalized and Partial Lipodystrophy: A Matched Cohort Analysis

2021-07-13

Metreleptin therapy was associated with a reduction in mortality risk in patients with lipodystrophy syndromes despite greater disease severity in treated patients, supporting the view that metreleptin can have a positive disease-modifying impact.

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.

FABRY

Application of Genetic Testing in Unveiling the Diagnosis of Fabry Disease in a Patient with Hypertrophic Cardiomyopathy

2021-04-01

In this paper, the case of a 40-year-old male FD patient with left ventricular hypertrophy is described.

GAUCHER

Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York

2021-01-01

The aim of this study was to evaluate the determinants of SARS CoV-2 infection in Gaucher disease (GD) patients. The findings indicated that, despite the chronic inflammatory state in these patients, GD does not increase the risk of serious effects of SARS-CoV-2 infection.

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