Petra Reková
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View article: Misprocessing of α-Galactosidase A, Endoplasmic Reticulum Stress, and the Unfolded Protein Response
Misprocessing of α-Galactosidase A, Endoplasmic Reticulum Stress, and the Unfolded Protein Response Open
Key Points The clinical significance of a number of missense variants of α -galactosidase A is often ambiguous. Defective proteostasis of some missense α -galactosidase A variants induced chronic endoplasmic reticulum stress and the unfold…
View article: Anderson–Fabry Disease Homozygosity: Rare Case of Late-Onset Variant
Anderson–Fabry Disease Homozygosity: Rare Case of Late-Onset Variant Open
Anderson–Fabry Disease (AFD) is a rare, X-linked lysosomal storage disorder caused by a mutation in the α-Galactosidase A gene resulting in α-Galactosidase A enzyme (α-Gal A) deficiency. The metabolic defect leads to the progressive accumu…
View article: Anderson – Fabry Disease Homozygosity: Rare Case of Late-Onset Variant
Anderson – Fabry Disease Homozygosity: Rare Case of Late-Onset Variant Open
Anderson – Fabry disease (AFD) is a rare, X-linked lysosomal storage disorder caused by a mutation in the α-Galactosidase A gene resulting in α-Galactosidase A enzyme (α-Gal A) deficiency. The metabolic defect leads to progressive accumula…
View article: Missed diagnosis of Fabry disease: should we screen patients with multiple sclerosis?
Missed diagnosis of Fabry disease: should we screen patients with multiple sclerosis? Open
Introduction Fabry disease (FD) can be undiagnosed in the context of multiple sclerosis (MS) due to similar clinical and paraclinical features. Our study aimed to determine the prevalence (and the necessity of screening) of FD among patien…
View article: Cerebrovascular Phenotype in Fabry Disease Patients Assessed by Ultrasound
Cerebrovascular Phenotype in Fabry Disease Patients Assessed by Ultrasound Open
Objectives Fabry disease (FD) is a rare X‐linked lysosomal storage disorder with variable phenotypes, including neurological symptoms. These can be influenced by vascular impairment. Extracranial and transcranial vascular sonography is an …
View article: Global Impact of the COVID-19 Pandemic on Stroke Volumes and Cerebrovascular Events
Global Impact of the COVID-19 Pandemic on Stroke Volumes and Cerebrovascular Events Open
This study is registered under NCT04934020.
View article: AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?
AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis? Open
Background Classic Fabry disease (FD) is caused by GLA mutations that result in enzymatic deficiency of alpha-galactosidase A (AGAL), lysosomal storage of globotriaosylceramide, and a resulting multisystemic disease. In non-classic later-o…
View article: Nationwide screening for Fabry disease in unselected stroke patients
Nationwide screening for Fabry disease in unselected stroke patients Open
Background and aims Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by disease-associated variants in the alpha-galactosidase A gene ( GLA ). FD is a known cause of stroke in younger patients. There are limited data…
View article: Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic
Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic Open
Fabry disease (FD) is a rare X-linked disorder of glycosphingolipid metabolism caused by pathogenic variants within the alpha-galactosidase A (GLA) gene, often leading to neurological manifestations including stroke. Multiple screening pro…
View article: Fabry disease
Fabry disease Open
Fabryho nemoc je vzácná dědičná metabolická porucha ze skupiny lysozomálních střádavých onemocnění.Tato nemoc je léčitelná díky enzymové substituční terapii,