Results 1 to 10 of about 932 (142)

Late-onset renal variant Fabry disease with R112H mutation and mild increase in plasma globotriaosylsphingosine: a case report [PDF]

Frontiers in Medicine
Fabry disease (FD) is an X-linked disorder resulting in a deficiency of α-galactosidase A (GLA) activity. The R112H mutation of GLA is relatively common in Japanese FD patients, characterized by a late-onset phenotype, almost normal to mild lyso-Gb3 ...
Keiko Tanaka, Hitoshi Sugiyama, Hitoshi Sugiyama, Hiroshi Morinaga, Akifumi Onishi, Katsuyuki Tanabe, Haruhito A. Uchida, Hiroki Maruyama, Hiroki Maruyama, Jun Wada   +9 more
doaj   +4 more sources

A Rapid and Simple UHPLC-MS/MS Method for Quantification of Plasma Globotriaosylsphingosine (lyso-Gb3) [PDF]

Molecules, 2021
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by α-galactosidase A gene (GLA) mutations, resulting in loss of activity of the lysosomal hydrolase, α-galactosidase A (α-Gal A).
Alessandro Perrone, Susan Mohamed, Vincenzo Donadio, Rocco Liguori, Manuela Contin   +4 more
doaj   +5 more sources

Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort [PDF]

Current Issues in Molecular Biology, 2021
Fabry disease is an X-linked disorder of α-galactosidase A (GLA) deficiency. Our previous interim analysis (1 July 2014 to 31 December 2015) revealed plasma globotriaosylsphingosine as a promising primary screening biomarker for Fabry disease probands ...
Hiroki Maruyama, Atsumi Taguchi, Mariko Mikame, Atsushi Izawa, Naoki Morito, Kazufumi Izaki, Toshiyuki Seto, Akifumi Onishi, Hitoshi Sugiyama, Norio Sakai, Kenji Yamabe, Yukio Yokoyama, Satoshi Yamashita, Hiroshi Satoh, Shigeru Toyoda, Michihiro Hosojima, Yumi Ito, Ryushi Tazawa, Satoshi Ishii   +18 more
doaj   +2 more sources

Distinctive accumulation of globotriaosylceramide and globotriaosylsphingosine in a mouse model of classic Fabry disease

Molecular Genetics and Metabolism Reports, 2023
Fabry disease (FD) is an inherited disease caused by deficient α-galactosidase A activity that is characterized by the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3).
Atsumi Taguchi, Satoshi Ishii, Mariko Mikame, Hiroki Maruyama   +3 more
doaj   +2 more sources

A new multiplex analysis of glucosylsphingosine and globotriaosylsphingosine in dried blood spots by tandem mass spectrometry

Molecular Genetics and Metabolism Reports, 2023
Background: Gaucher's and Fabry's disease are two of the most common treatable lysosomal storage diseases, and have a wide spectrum of clinical symptoms. Early detection is important, because timely initiation of treatments can improve the disease status
Amber Van Baelen, Laurence Roosens, Sylvie Devos, Stijn Verhulst, François Eyskens   +4 more
doaj   +2 more sources

Screening and diagnosis of Fabry disease in chronic kidney disease: the important role of globotriaosylsphingosine [PDF]

Kidney Research and Clinical Practice
Jung-ho Shin, Su Hyun Kim
doaj   +4 more sources

Does administration of hydroxychloroquine/amiodarone accelerate accumulation of globotriaosylceramide and globotriaosylsphingosine in Fabry mice?

Molecular Genetics and Metabolism Reports, 2021
Drug-induced lysosomal storage disease (DILSD) caused by cationic amphiphilic drugs (CADs), which exhibits toxic manifestations and pathological findings mimicking Fabry disease (α-galactosidase A deficiency), has attracted the interests of clinicians ...
Takahiro Tsukimura, Tomoko Shiga, Koki Saito, Yasuhiro Ogawa, Hitoshi Sakuraba, Tadayasu Togawa   +5 more
doaj   +2 more sources

Epithelial-Mesenchymal Transition in Kidney Tubular Epithelial Cells Induced by Globotriaosylsphingosine and Globotriaosylceramide. [PDF]

PLoS ONE, 2015
Fabry disease is a lysosomal storage disorder caused by deficiency of alpha-galactosidase A (α-gal A), which results in the deposition of globotriaosylceramide (Gb3) in the vascular endothelium.
Yeo Jin Jeon, Namhee Jung, Joo-Won Park, Hae-Young Park, Sung-Chul Jung   +4 more
doaj   +3 more sources

Adequate hemodialysis does not compromise the cardioprotective effect of agalsidase alfa on patients with Fabry disease: a case report [PDF]

Journal of Medical Case Reports
Background Fabry disease is an inherited lysosomal storage disease that can be reversed, or the progression slowed, by enzyme replacement therapy in the early stage.
Xiansen Wei, Shimin Jiang, Li Zhuo, Hong Jiang, Wenge Li   +4 more
doaj   +2 more sources

Globotriaosylsphingosine accumulation and not alpha-galactosidase-A deficiency causes endothelial dysfunction in Fabry disease.

PLoS ONE, 2012
BackgroundFabry disease (FD) is caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (GLA) resulting in the accumulation of globotriaosylsphingosine (Gb3) in a variety of tissues.
Mehdi Namdar, Catherine Gebhard, Rafael Studiger, Yi Shi, Pavani Mocharla, Christian Schmied, Pedro Brugada, Thomas F Lüscher, Giovanni G Camici   +8 more
doaj   +3 more sources