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
Screening for Fabry disease in patients with left ventricular hypertrophy in China: A multicentre and prospective study
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DOI: 10.1002/ehf2.15065
Abstract: Left ventricular hypertrophy (LVH) is frequently detected via echocardiography in individuals with Fabry disease (FD), sometimes leading to confusion with hypertrophic cardiomyopathy (HCM) of other aetiologies. Considering this diagnosis challenge, FD should be included in… read more here.
Keywords: fabry disease; study; left ventricular; ventricular hypertrophy ... See more keywords
Default mode network modifications in Fabry disease: A resting‐state fMRI study with structural correlations
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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
Clinical and Biochemical Characterization of Fabry Disease Associated GLA Gene Variants: Data From a Large Cohort of 469 Thousand Genotyped Subjects of the UK Biobank Database
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.70103
Abstract: Fabry disease (FD) is a lysosomal storage disease due to genetic variants in the GLA gene located on the X chromosome. Males are hemizygous, while many females are genetic mosaics due to the random inactivation… read more here.
Keywords: disease; gene variants; score; gla gene ... 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
Genotype–Phenotype Spectrum of 52 Mexican Patients With Fabry Disease: A Novel GLA Variant With Atypical Phenotype
Sign Up to like & getrecommendations! Published in 2024 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.70039
Abstract: Fabry disease (FD) is a rare lysosomal type 3 disorder with an X‐linked inheritance pattern caused by pathogenic variants in the GLA gene. This study aimed to describe the genotype and phenotype of 52 Mexican… read more here.
Keywords: mexican patients; genotype phenotype; phenotype; fabry disease ... 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