"Late-onset Fabry Disease" search results...

p.Pro380Leu novel pathogenic variant of GLA gene should be considered as pathogenic and associated with a late-onset variant of Fabry disease with a predominant neurological phenotype.

FABRY

Late-onset Fabry disease: The cardiac sequela

2022-06-09

This is the first detailed description of a late-onset phenotype of Fabry disease (FD) with c.146 G>C GLA variant. In addition, this case serves as a potent reminder to pay meticulous attention to 'red flags' accompanying left ventricular hypertrophy (LVH)

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.

FABRY

Relapsing minimal change disease superimposed on late-onset p.N215S Fabry nephropathy

2021-08-13

In this paper, the importance of electron microscopy is highlighted and histological features common to Fabry nephropathy and minimal change disease (MCD) are discussed

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

FABRY

Late-onset Fabry disease due to a new (p.Pro380Leu) pathogenic variant of GLA Gene

FABRY

Late-onset Fabry disease: The cardiac sequela

FABRY

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

FABRY

Relapsing minimal change disease superimposed on late-onset p.N215S Fabry nephropathy

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