Results 61 to 70 of about 744,838 (140)
Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.ABSTRACT This paper reviews biomarkers in lysosomal disease according to their categories and definitions. There are numerous biomarkers in lysosomal diseases. Some are disease or organ‐specific, but most are not. Organ‐specific biomarkers are especially useful, but most biomarkers help with diagnosis, assessing disease severity, prognosis, and ...
Raphael Schiffmann
wiley +1 more source
JIMD Reports, Volume 66, Issue 2, March 2025.ABSTRACT Despite life‐long pharmacotherapy for many people affected by lysosomal storage diseases, no data are available on their beliefs about their treatments. Therapeutic options range from disease‐specific, with varying levels of effectiveness, to purely supportive.
Eleonore M. Corazolla +4 more
wiley +1 more source
, 2019 Background: Fabry disease is a rare, X-linked, lifelong progressive lysosomal storage disorder. Severely deficient α-galactosidase A activity in males is associated with the classic phenotype with early-onset, multisystem manifestations evolving to vital
Fainboim, Alejandro +35 more
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Cardiomyopathy and response to enzyme replacement therapy in a male mouse model for Fabry disease.
PLoS ONE, 2012 Fabry disease is an X-linked disorder of glycosphingolipid metabolism that results in progressive accumulation of neutral glycosphingolipids, (predominately globotriaosylceramide; GL-3) in lysosomes, as well as other cellular compartments and the ...
Aurelie Nguyen Dinh Cat +8 more
doaj +1 more source
Stroke and associated comorbidities in Southeast Asian countries
Neuroprotection, Volume 3, Issue 1, Page 29-47, March 2025.Different diseases can act as comorbid factors of stroke. Among them, hyperglycemia, hypertension, hyperlipidemia, atrial fibrillation, cancer, and chronic kidney disease act as major comorbidities. Whereas migraine, Fabry disease, Moyamoya disease, sickle cell disease, cerebral autosomal dominant arteriopathy with subcortical infarcts and ...
Aishika Datta +9 more
wiley +1 more source
, 2023 What is Fabry disease & what is this study about? Fabry disease is a rare genetic condition that affects many different cells and organs in the body. People have Fabry disease when they inherit a GLA gene containing an error from one or both of their ...
Ulla Feldt-Rasmussen (317604) +2 more
core +1 more source
Current status of the immunogenicity of enzyme replacement therapy in fabry disease
Orphanet Journal of Rare DiseasesIn patients with Fabry disease (FD), treatment with enzyme replacement therapy (ERT), may trigger the formation of anti-drug antibodies (ADAs). The consequences of this immune reaction range from the transient appearance of clinically insignificant ADAs ...
Jorge F. Gómez-Cerezo +7 more
doaj +1 more source
Case Reports in Nephrology, 2014 Patients with Fabry disease present a higher risk of cardiovascular and kidney morbidity. We present a patient with a past history of biopsy-proven Fabry disease and stage 3 chronic kidney disease.
H. Trimarchi +6 more
doaj +1 more source
European Journal of Pain, Volume 29, Issue 1, January 2025.Abstract Background Fabry disease (FD) is a rare X‐linked lysosomal disorder caused by alpha‐galactosidase deficiency consecutive to a pathogenic variant in the GLA gene. Age at onset is highly variable, with a wide clinical spectrum including frequent renal, cardiac, skin and nervous system manifestations.
Chloé Angelini +38 more
wiley +1 more source
, 2023 What is Fabry disease & what is this study about? Fabry disease is a rare genetic condition that affects many different cells and organs in the body. People have Fabry disease when they inherit a GLA gene containing an error from one or both of their ...
Ulla Feldt-Rasmussen (317604) +2 more
core +1 more source