Blar i Department of Clinical Science på tidsskrift "Molecular Genetics and Metabolism"
Viser treff 1-4 av 4
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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 ... -
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, ...