Rare Diseases

Current bibliography for experts

"Inflammation" search results...

ENZIM REPLASMA TERAPISI

Aseptic meningitis in Fabry disease due to a novel GLA variant: an expanded phenotype?

2023-03-29

This paper presents a family in which a novel GLA pathogenic variant was associated with aseptic meningitis in 2 of 5 family members.

FABRY

Prediction of Regulatory SNPs in Putative Minor Genes of the Neuro-Cardiovascular Variant in Fabry Reveals Insights into Autophagy/Apoptosis and Fibrosis

2022-08-30

This study analyses 110 single nucleotide polymorphisms (SNPs) in the proximal promoter of 14 genes that could modify the phenotype of Fabry disease (FD).

GAUCHER

Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case

2022-06-15

Misdiagnosis and diagnostic delay in metabolic diseases could cause irreversible organ damage and delay the start of specific therapy for these patients.

FABRY

Growth Differentiation Factor-15 and Syndecan-1 Are Potential Biomarkers of Cardiac and Renal Involvement in Classical Fabry Disease under Enzyme Replacement Therapy

2022-01-01

Growth Differentiation Factor-15 (GDF-15) and Syndecan-1 were associated with parameters of cardiac and renal involvement in classic Fabry disease patients on enzyme replacement therapy (ERT). Their potential association with residual risk and disease outcomes should be investigated.

FABRY

MiRNA Let-7a and Let-7d Are Induced by Globotriaosylceramide via NF-kB Activation in Fabry Disease

2021-07-30

According to the findings of this study, Let-7a and Let-7d may be useful indicators for enzyme activity and inflammation in Fabry disease patients.

MPS

Differences in MPS I and MPS II Disease Manifestations

2021-07-23

While enzyme replacement therapy (ERT) has beneficial effects on respiratory and cardiopulmonary function and extends the lifespan of MPS II patients, it does not significantly affect CNS manifestations. Therefore, many experimental therapies aim to prevent neurocognitive decline in these patients.

GAUCHER

SARS-CoV-2 infection and COVID‒19 in Gaucher disease: indications for vaccination

2021-06-13

We review here the current concepts of Gaucher disease and SARS-CoV-2 infection, focusing particularly on general prevention and vaccination.

FABRY

Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week

2021-02-23

The diagnosis and staging of FD-related cardiac diseases have improved thanks to advances in imaging techniques, suggesting that myocardial inflammation plays a significant role in the development of the disease.

ASMD

Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers

2020-05-15

In this review, clinically important endpoints as well as biochemical and imaging markers of ASMD are discussed and potential new biomarkers are identified.

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