Results 11 to 20 of about 1,308 (153)

Nano-LC-MS/MS for Quantification of Lyso-Gb3 and Its Analogues Reveals a Useful Biomarker for Fabry Disease. [PDF]

PLoS ONE, 2015
Biomarkers useful for diagnosis and evaluation of treatment for patients with Fabry disease are urgently needed. Recently, plasma globotriaosylsphingosine (lyso-Gb3) and lyso-Gb3-related analogues have attracted attention as promising biomarkers of Fabry
Hideaki Sueoka, Junji Ichihara, Takahiro Tsukimura, Tadayasu Togawa, Hitoshi Sakuraba   +4 more
doaj   +4 more sources

Fabry Disease Nephropathy: Compendium of “in vitro” and “in vivo” Renal Effects of Globotriaosylsphingosine [PDF]

Kidney & Blood Pressure Research
Background: Renal damage in Fabry disease (FD) is a consequence of pathological and progressive glycosphingolipids accumulation, which occurs in different magnitudes among FD phenotypes, but is a constant renal tissue phenomenon in all ...
Sebastián Pedro Antonio Jaurretche, María Victoria del Rosal, María Luana Brajkovic, Juan Ignacio Isaac, Graciela Venera, Germán Pérez   +5 more
doaj   +2 more sources

High Lyso-Gb3 Plasma Levels Associated with Decreased miR-29 and miR-200 Urinary Excretion in Young Non-Albuminuric Male Patient with Classic Fabry Disease [PDF]

Case Reports in Nephrology, 2019
Renal involvement is associated with a greater morbidity and mortality in Fabry disease. Pathological albuminuria, the first Fabry nephropathy clinical manifestation, can occur from early childhood, although histological lesions such as tubulo ...
Sebastián Jaurretche, Germán R. Perez, Graciela Venera   +2 more
doaj   +2 more sources

From diagnosis to disease-specific treatment: first experience with enzyme replacement therapy for Fabry disease in North Macedonia—a case series [PDF]

Frontiers in Medicine
BackgroundFabry disease is a rare X-linked lysosomal storage disorder caused by deficiency of α-galactosidase A, leading to progressive accumulation of globotriaosylceramide and Lyso-Gb3 across multiple organ systems.
Vlatko Karanfilovski, Igor G. Nikolov, Pavlina Dzekova Vidimliski, Svetlana Krstevska Balkanov, Galina Severova, Ana Stojanoska, Nikola Gjorgjievski   +6 more
doaj   +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-sphingosine (Lyso-Gb3). Here, we compared the levels of Lyso-Gb3 in dried blood spots (DBS) and sera in
Robert Desnick, Albina Nowak, Thomas Mechtler   +2 more
exaly   +4 more sources

The use and performance of lyso-Gb3 for the diagnosis and monitoring of Fabry disease: A systematic literature review

Molecular Genetics and Metabolism
Background: Fabry disease (FD) is a rare, X-linked lysosomal storage disorder in which a lack of alpha-galactosidase (α-Gal A) enzyme activity leads to intracellular accumulation of deacylated globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3), and their analogs.
Karen Tylee, Albina Nowak, Uma Rámaswámí   +2 more
exaly   +3 more sources

Case Report: Novel GLA mutation in a Chinese female with renal-predominant Fabry disease and cardiac hypertrophy [PDF]

Frontiers in Genetics
BackgroundFabry disease (FD) is a rare X-linked lysosomal storage disorder caused by GLA gene mutations, leading to deficient α-galactosidase A (α-Gal A) activity and progressive accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine ...
Lanxin Li, Tianyu Chang, Xichen Li, Yinglu Hao, Min Deng, Yanping Li   +5 more
doaj   +2 more sources

Determination of Gb3 and Lyso-Gb3 in Fabry Disease-Affected Patients by LC-MRM/MS

Separations
Limited or absent activity of the enzyme α-galactosidase A (α-Gal A), due to mutation in the related gene on the X chromosome, leads to the development of a rare hereditary and genetic disease known as Fabry disease (FD).
Gennaro Battaglia, Gabriella Pinto, Carolina Fontanarosa, Michele Spinelli, Anna Illiano, Stefania Serpico, Lorenzo Chiariotti, Roberta Risoluti, Stefano Materazzi, Angela Amoresano   +9 more
doaj   +3 more sources

Lyso-Gb3 in a Fabry pediatric cohort diagnosed by newborn screening. [PDF]

Genet Med Open
Burlina AP, Gragnaniello V, Edini C, Salviati L, Polo G, Porcù E, Meloni N, Cazzorla C, Germain DP, Burlina AB.   +9 more
europepmc   +2 more sources

The Fabry disease-associated lipid Lyso-Gb3 enhances voltage-gated calcium currents in sensory neurons and causes pain

Neuroscience Letters, 2015
Fabry disease is an X-linked lysosomal storage disorder characterised by accumulation of glycosphingolipids, and accompanied by clinical manifestations, such as cardiac disorders, renal failure, pain and peripheral neuropathy. Globotriaosylsphingosine (lyso-Gb3), a deacylated form of globotriaosylceramide (Gb3), has emerged as a marker of Fabry disease.
Peter Clayton, Olga Kopach, John Wood
exaly   +4 more sources