Results 21 to 30 of about 1,271 (166)

Fabry nephropathy as the clinical anchor for kidney-centered metabolic surveillance: linking genetic heterogeneity to early risk identification [PDF]

Frontiers in Genetics
Fabry disease is an X-linked lysosomal storage disorder caused by pathogenic variants in GLA, in which the kidney is a principal target organ and Fabry nephropathy is a major determinant of long-term outcome.
Yanshu Xie, Jingzi Zhong
doaj   +2 more sources

Plasma Globotriaosylsphingosine Level as a Primary Screening Target for Fabry Disease in Patients With Left Ventricular Hypertrophy [PDF]

Circulation Journal, 2019
Although previous studies have suggested a certain prevalence of Fabry disease (FD) in left ventricular hypertrophy (LVH) patients, the screening of FD is difficult because of its wide-ranging clinical phenotypes. We aimed to clarify the utility of combined measurement of plasma globotriaosylsphingosine (lyso-Gb3) concentration and α-galactosidase A ...
Yamashita, Satoshi, Saotome, Masao, Satoh, Hiroshi, Kajihara, Jun, Mochizuki, Yusaku, Mizuno, Kimito, Nobuhara, Mamoru, Miyajima, Keisuke, Kumazawa, Azumi, Tominaga, Hiromutsu, Takase, Hiroyuki, Tawarahara, Kei, Wakahara, Nobuyuki, Matsunaga, Masaki, Wakabayashi, Yasushi, Matsumoto, Yuji, Terada, Hajime, Sano, Makoto, Ohtani, Hayato, Urushida, Tsuyoshi, Hayashi, Hideharu, Ishii, Satoshi, Maruyama, Hiroki, Maekawa, Yuichiro   +23 more
openaire   +4 more sources

Pathogenic mechanisms in Fabry disease [PDF]

Frontiers in Medicine
Anderson-Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by deficient activity of the enzyme α-galactosidase A, resulting in progressive accumulation of glycosphingolipids, particularly globotriaosylceramide (Gb3), across multiple
Siming Wang, Chengyue Sun
doaj   +2 more sources

Globotriaosylsphingosine (Lyso‐Gb₃) as a biomarker for cardiac variant (N215S) Fabry disease

Journal of Inherited Metabolic Disease, 2018
AbstractFabry disease (FD) is a multi‐systemic X‐linked lysosomal disorder caused by the deficient activity of α‐galactosidase‐A enzyme, which leads to accumulation of glycosphingolipids in various body tissues. The N215S mutation is a known variant of FD, with a late onset cardiac phenotype.
Fahad J. Alharbi, Shanat Baig, Christiane Auray‐Blais, Michel Boutin, Douglas G. Ward, Nigel Wheeldon, Rick Steed, Charlotte Dawson, Derralynn Hughes, Tarekegn Geberhiwot   +9 more
openaire   +3 more sources

Monitoring globotriaosylsphingosine in a Korean male patient with Fabry disease

Kidney Research and Clinical Practice, 2019
Heejoon Jang, Kwon Wook Joo, Seung Seok Han   +2 more
doaj   +3 more sources

Quantification of Globotriaosylsphingosine in Plasma and Urine of Fabry Patients by Stable Isotope Ultraperformance Liquid Chromatography–Tandem Mass Spectrometry [PDF]

Clinical Chemistry, 2013
BACKGROUND Biochemical markers that accurately reflect the severity and progression of disease in patients with Fabry disease and their response to treatment are urgently needed. Globotriaosylsphingosine, also called lysoglobotriaosylceramide (lysoGb3), is a promising candidate biomarker.
Gold, H., Mirzaian, M., Dekker, N., Joao Ferraz, M., Lugtenburg, J., Codee, J.D.C., Marel, G.A. van der, Overkleeft, H.S., Linthorst, G.E., Groener, J.E.M., Aerts, J.M.F.G., Poorthuis, B.J.H.M.   +11 more
openaire   +5 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   +3 more sources

Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study

Frontiers in Medicine, 2023
ObjectiveFabry disease is a progressive disorder caused by deficiency of the α-galactosidase A enzyme (α-Gal A), leading to multisystemic organ damage with heterogenous clinical presentation.
Daniel G. Bichet, Robert J. Hopkin, Patrício Aguiar, Patrício Aguiar, Sridhar R. Allam, Sridhar R. Allam, Yin-Hsiu Chien, Yin-Hsiu Chien, Roberto Giugliani, Roberto Giugliani, Staci Kallish, Sabina Kineen, Olivier Lidove, Olivier Lidove, Dau-Ming Niu, Dau-Ming Niu, Iacopo Olivotto, Juan Politei, Paul Rakoski, Roser Torra, Camilla Tøndel, Camilla Tøndel, Derralynn A. Hughes   +22 more
doaj   +1 more source

Clinical and biochemical investigation of male patients exhibiting membranous cytoplasmic bodies in biopsied kidney tissues; a pitfall in diagnosis of Fabry disease [PDF]

Journal of Nephropathology, 2015
Background: The existence of membranous cytoplasmic bodies in biopsied kidney tissues is one of the important findings when considering Fabry disease as the first choice diagnosis.
Hitoshi Sakuraba, Takahiro Tsukimura, Toshie Tanaka, Tadayasu Togawa, Naoki Takahashi, Daisuke Mikami, Sachiko Wakai, Yasuhiro Akai   +7 more
doaj   +1 more source

Analysis of Lyso-Globotriaosylsphingosine in Dried Blood Spots [PDF]

Annals of Laboratory Medicine, 2013
Recently, lyso-globotriaosylsphingosine (lyso-Gb3) was found to be elevated in plasma of treatment naive male patients and some female patients with Fabry Disease (FD). This study tested whether lyso-Gb3 could be analyzed in dried blood spots (DBS) from filter cards and whether concentrations are elevated in newborn infants with FD.
Johnson, Britt, Mascher, Hermann, Mascher, Daniel, Legnini, Elisa, Hung, Christina Y, Dajnoki, Angela, Chien, Yin-Hsiu, Maródi, László, Hwu, Wuh-Liang, Bodamer, Olaf A   +9 more
openaire   +2 more sources