Heart failure in Fabry disease revisited: application of current heart failure guidelines and recommendations
Sign Up to like & getrecommendations! Published in 2022 at "ESC Heart Failure"
DOI: 10.1002/ehf2.14091
Abstract: Fabry disease (FD) is often associated with heart failure (HF). However, data on HF prevalence, prognosis, and applicability of echocardiographic criteria for HF diagnosis in FD remain uncertain. read more here.
Keywords: failure fabry; heart failure; heart; fabry disease ... See more keywords
Default mode network modifications in Fabry disease: A resting‐state fMRI study with structural correlations
Sign Up to like & getrecommendations! Published in 2018 at "Human Brain Mapping"
DOI: 10.1002/hbm.23949
Abstract: Aim of the study was to evaluate the presence of Default Mode Network (DMN) modifications in Fabry Disease (FD), and their possible correlations with structural alterations and neuropsychological scores. Thirty‐two FD patients with a genetically… read more here.
Keywords: modifications fabry; default mode; fabry disease; mode network ... See more keywords
Fabry Disease practice resource: Focused revision
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1318
Abstract: This Practice Resource (PR) is provided by the National Society of Genetic Counselors (NSGC) solely to serve as a helpful practicemanagement resource and tool for genetic counselors and other healthcare providers. NSGC’s PRs are not… read more here.
Keywords: resource; fabry disease; disease practice; nsgc prs ... See more keywords
Cognitive dysfunction and white matter hyperintensities in Fabry disease
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12472
Abstract: Fabry disease (FD) is an X‐linked lysosomal storage disorder with multi‐system involvement including cerebrovascular disease. Patients with FD also have a high risk of ischaemic stroke and TIA. White matter hyperintensities are common, but their… read more here.
Keywords: white matter; disease; disease cognitive; matter hyperintensities ... See more keywords
Recurrent fever of unknown origin: An overlooked symptom of Fabry disease
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1454
Abstract: Fabry disease (FD) is a rare X‐linked lysosomal storage disorder due to the absent or deficient activity of lysosomal hydrolase a‐galactosidase A (α‐Gal A), which leads to the accumulation of its substrates in various organs… read more here.
Keywords: unknown origin; fabry disease; disease; recurrent fever ... See more keywords
Pulmonary manifestations and the effectiveness of enzyme replacement therapy in Fabry Disease with the p. Arg227Ter (p.R227*) mutation
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1915
Abstract: Fabry disease (FD) is caused by a defect in α‐galactosidase A gene (GLA) which leads to a progressive accumulation of neutral shingolipids, mainly globotriaosylceramide and its metabolites in several organs. Pulmonary manifestations of FD mimic… read more here.
Keywords: pulmonary manifestations; disease; replacement therapy; enzyme replacement ... See more keywords
Strong increase of leukocyte apha‐galactosidase A activity in two male patients with Fabry disease following oral chaperone therapy
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.894
Abstract: Fabry disease (OMIM 301500) is an X‐linked disorder caused by alpha‐galactosidase A (α‐Gal A) deficiency. The administration of a pharmacologic chaperone (migalastat) in Fabry patients with amenable mutations has been reported to improve or stabilize… read more here.
Keywords: fabry disease; increase; galactosidase; chaperone ... See more keywords
Proteinuria in a male adolescent with hearing loss: Answers
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DOI: 10.1007/s00467-017-3825-y
Abstract: Question 1 The electron microscopy study revealed the presence of zebra bodies (lamellar lipid inclusion bodies) in the podocyte cytoplasm, which is pathognomonic for Fabry disease [1]. Since Fabry disease is very rarely encountered in… read more here.
Keywords: hearing loss; nephrology; fabry disease; proteinuria male ... See more keywords
X-chromosome inactivation patterns in females with Fabry disease examined by both ultra-deep RNA sequencing and methylation-dependent assay
Sign Up to like & getrecommendations! Published in 2021 at "Clinical and Experimental Nephrology"
DOI: 10.1007/s10157-021-02099-4
Abstract: Fabry disease is an X-linked inherited lysosomal storage disorder caused by mutations in the gene encoding α-galactosidase A. Males are usually severely affected, while females have a wide range of disease severity. This variability has… read more here.
Keywords: methylation dependent; chromosome inactivation; fabry disease; disease ... See more keywords
Hearing loss in children with Fabry disease
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Inherited Metabolic Disease"
DOI: 10.1007/s10545-017-0051-5
Abstract: BackgroundHearing loss (HL) is a well-known feature of Fabry disease (FD). Its presence and characteristics have mainly been studied in adult patients, while only limited data are available on the presence and degree of HL… read more here.
Keywords: fabry disease; ultra high; hearing; hearing sensitivity ... See more keywords
Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Inherited Metabolic Disease"
DOI: 10.1007/s10545-017-0095-6
Abstract: Quality of life (QoL) is decreased in patients with Fabry disease (FD). To improve QoL, it is important to understand the influence of FD related characteristics, symptoms, and complications. In this retrospective cohort study we… read more here.
Keywords: phenotype; fabry disease; study; disease ... See more keywords