Results 131 to 140 of about 6,638 (157)

High-Resolution Mass Spectrometry Method for Targeted Screening and Monitoring of Fabry, Gaucher and ASMD Using Dried Blood Spots and Capitainers: Impact of Sample Matrix on Measurement Results. [PDF]

Int J Mol Sci
Van Baelen A, Verhulst S, Eyskens F.
europepmc   +1 more source

Ocular and confocal manifestations of Mainland Chinese with Fabry disease: a cross-sectional controlled study. [PDF]

Orphanet J Rare Dis
Xu Y, Chen Y, Fan J, Kou S, Zhuang X, Zhou B, Zhang X.   +6 more
europepmc   +1 more source

Elevated circulating cell-free mitochondrial DNA in fabry disease: insights into inflammatory activation. [PDF]

Front Immunol
Yuan Y, Zhang X, Zhao Y, Wang Y, Huang J, Wang Q, Song X, Deng J, Wang Z, Yuan Y, Zhang W.   +10 more
europepmc   +1 more source

A multigenerational fabry disease case caused by a <i>de novo</i> GLA mutation: Diagnostic delay, phenotypic variability, and the impact of early detection. [PDF]

J Family Med Prim Care
Topsakal S, Tekin I, Tekin S, Kaya H, Çakmak V, Onay H.   +5 more
europepmc   +1 more source

Fabry Disease Beyond Storage: The Role of Inflammation in Disease Progression. [PDF]

Int J Mol Sci
Biddeci G, Spinelli G, Colomba P, Duro G, Giacalone I, Di Blasi F.   +5 more
europepmc   +1 more source

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Abstract 12884: Reduction of Alpha-1,4-Galactosyltransferase (A4GALT) by Antisense Oligonucleotide Mitigates Globotriaosylsphingosine (lyso-gb3) Accumulation in Fabry Mice

Circulation, 2022
Fabry disease is one of the most common lysosomal storage disorders that results from a deficiency of the enzyme alpha galactosidase A (GLA). The deficiency leads to systemic accumulation of globotriaosylceramide (Gb3) and its deacylated derivative, Lyso-Gb3, in multiple organs, which can progress into end stage renal disease, heart failure or stroke ...
Xin Yi Yeap, Asa Wahlander, Ting-yuan T Yeh, Adam E Mullick   +3 more
openaire   +1 more source

Characterization of Fabry disease-associated lyso-Gb3 on mouse colonic ion transport and motility

American Journal of Physiology - Renal Physiology
: Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by a deficiency in α-galactosidase A leading to the accumulation of globotriaosylceramide (Gb3) and subsequent increase in globotriaosylsphingosine (lyso-Gb3) in different cells ...
Marco Caprini, Niall P. Hyland, Cecilia Delprete   +2 more
exaly   +2 more sources

Lyso‐globotriaosylsphingosine (lyso‐Gb₃) levels in neonates and adults with the Fabry disease later‐onset GLA IVS4+919G>A mutation

Journal of Inherited Metabolic Disease, 2012
AbstractLyso‐globotriaosylsphingosine (lyso‐Gb3) is a useful biomarker in the diagnosis and monitoring of treatment for Fabry disease. However, it is unclear whether lyso‐Gb3 is elevated in patients with later‐onset Fabry disease. Thus, we measured lyso‐Gb3 levels from dried blood spots (DBS) from male newborns with the Fabry disease later‐onset ...
Yin-Hsiu, Chien, Olaf A, Bodamer, Shu-Chuan, Chiang, Hermann, Mascher, Christina, Hung, Wuh-Liang, Hwu   +5 more
openaire   +2 more sources

Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease [PDF]

Molecular Genetics and Metabolism, 2017
Background: Fabry disease (FD), an X-linked lysosomal storage disorder, results from the deficient activity of α-galactosidase A (α-Gal A) and the accumulation of its substrates, globotriaosylceramide (Gb3) and its deacylated derivative, globotriaosyl ...
Robert J. Desnick, Albina Nowak, Thomas Mechtler   +2 more
exaly   +2 more sources

HTA65 The Relationship between Globotriaosylceramide (GB3), Globotriaosylsphingosine (LYSO-GB3) and Disease-Related Clinical Events in Patients with Fabry Disease

Value in Health, 2022
K Azimpour, E Kim, M Musat, L Monfort, E Cha   +4 more
openaire   +1 more source