Blar i University of Bergen Library på tidsskrift "Molecular Genetics and Metabolism"
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Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry registry
(Journal article; Peer reviewed, 2023)Background Clinical manifestations of classic Fabry disease (α-galactosidase A deficiency) usually occur in childhood, while complications involving major organs typically develop in adulthood. Outcomes of Fabry-specific ... -
Clinical relevance of globotriaosylceramide accumulation in Fabry disease and the effect of agalsidase beta in affected tissues
(Journal article; Peer reviewed, 2022)Fabry disease (FD) is a rare lysosomal storage disorder, characterized by a reduction in α-galactosidase A enzyme activity and the progressive accumulation of globotriaosylceramide (GL3) and its metabolites in the cells ... -
Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression
(Journal article; Peer reviewed, 2022)Background Enzyme replacement therapy (ERT) slows disease progression of Fabry disease (FD), especially when initiated before the onset of irreversible organ damage. However, with the clinically asymptomatic progression ... -
An expert consensus on the recommendations for the use of biomarkers in Fabry disease
(Journal article; Peer reviewed, 2023)Fabry disease is an X-linked lysosomal storage disorder caused by the accumulation of glycosphingolipids in various tissues and body fluids, leading to progressive organ damage and life-threatening complications. Phenotypic ... -
Renal function, sex and age influence purines and pyrimidines in urine and could lead to diagnostic misinterpretation
(Journal article; Peer reviewed, 2023)Glomerular filtration rate (GFR) is commonly used in clinical practice for the diagnosis and follow-up of chronic kidney disease. Screening for inborn errors of metabolism (IEM) is based on analysis of biomarkers in urine, ...