Results 101 to 110 of about 7,193 (177)

P023: The clinical utility of plasma Lyso-Gb3 in the diagnosis of Fabry disease in infants and adults

Genetics in Medicine Open, 2023
Wenjiao Li, Brandon Stauffer, Hongjie Chen, Jing Xiao, Yu Leng Phua, Neal Cody, Lisa Edelmann, Ruth Kornreich, Robert Desnick, Chunli Yu   +9 more
openaire   +2 more sources

N215S correlation analyses: Plasma globotriaosylsphingosine (Lyso-Gb3) and age for males (blue; n = 13) and females (red; n = 26).

, 2018
N215S correlation analyses: Plasma globotriaosylsphingosine (Lyso-Gb3) and age for males (blue; n = 13) and females (red; n = 26).
B. Beaton (5066303), D. A. Hughes (5066294), U. Ramaswami (5066297), A. S. Thomas (5066300), H. Ebrahim (5066309), P. Elliott (1293702), M. Reed (4855099), A. B. Mehta (5066306), L. Lavalle (5066291)   +8 more
core   +1 more source

Cardiac Involvement in Fabry Disease: Correlation with Enzyme Activity, Lyso-Gb3 Levels, and Disease Severity

Introduction:Fabry disease (FD) is a X-linkedmultısystemic lysosomal storage disorder caused by mutations of the GLA gene.Deficient activity of α-galactosidase leads to the accumulation ofglobotriasylceramide (Gb3) in various tissue.
Uzun Dinçtürk, Duygu, Teke Kısa, Pelin, Kulu, Bahar, Bilen, Merve, Özpelit, Ebru, Demirdöken, Emine Didem, Karalar Pekuz, Özge Kamer, Arslan, Nur   +7 more
core   +1 more source

Effect of lyso-Gb3 on the intestinal microbiota may contribute to gastrointestinal symptoms in Fabry’s disease patients

, 2019
Resumen del trabajo presentado al 29th European Congress of Clinical Microbiology and Infectious Diseases (ECCMID), celebrado en Amsterdam (Netherlands) del 13 al 16 de abril de 2019.[Background]: Fabry’s disease is an X-linked, lysosomal storage ...
Martínez-Cuesta, M. Carmen, Esteban, Jaime, Sánchez-Niño, María Dolores, Peláez, Carmen, Sáez Martínez, Esteban F., Requena, Teresa, Ortiz, Alberto, Aguilera-Correa, John-Jairo   +7 more
core  

Correction: Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis. [PDF]

Genet Med, 2019
Maruyama H, Miyata K, Mikame M, Taguchi A, Guili C, Shimura M, Murayama K, Inoue T, Yamamoto S, Sugimura K, Tamita K, Kawasaki T, Kajihara J, Onishi A, Sugiyama H, Sakai T, Murata I, Oda T, Toyoda S, Hanawa K, Fujimura T, Ura S, Matsumura M, Takano H, Yamashita S, Matsukura G, Tazawa R, Shiga T, Ebato M, Satoh H, Ishii S.   +30 more
europepmc   +3 more sources

Abstract Fri083: CHIP protects a murine model of Lyso-Gb3–induced Fabry disease by restoring α-galactosidase A activity and cellular homeostasis

Fabry disease is an X-linked lysosomal storage disorder caused by pathogenic mutations in the GLA gene, resulting in deficient α-galactosidase A (α-gal A) activity and progressive accumulation of globotriaosylceramide (Gb3) and its deacylated metabolite ...
Ae-Rang Hwang
core   +1 more source

Disease severity and lyso-Gb3 are associated with early echocardiographic markers of cardiac involvement in Fabry disease: a single-center observational study

Background Cardiac involvement in Fabry disease often begins with subtle functional abnormalities before overt hypertrophy or systolic dysfunction becomes evident.
Gökhan Altunbaş, Merve Binicier İnce, İlkay Doğan, Deniz Mitil, Zeynel Abidin Sayiner, Kayahan Tekinşen   +5 more
core   +1 more source

Assessment of plasma lyso-Gb₃ for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease. [PDF]

Genet Med, 2021
Bichet DG, Aerts JM, Auray-Blais C, Maruyama H, Mehta AB, Skuban N, Krusinska E, Schiffmann R.   +7 more
europepmc   +1 more source

Analysis of Lyso-Globotriaosylsphingosine in Dried Blood Spots

, 2014
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).
Johnson, Britt;Mascher, Hermann;Mascher, Daniel;Legnini, Elisa;Hung, Christina Y.;Dajnoki, Angela;Chien, Yin-Hsiu;Marodi, Laszlo;Hwu, Wuh-Liang;Bodamer, Olaf A., 胡務亮 ;簡穎秀   +1 more
core  

Simultaneous Determination of Lyso-Gb1 and Lyso-Gb3 in Plasma Using Salt-Assisted Liquid-Liquid Extraction Combined with LC-MS/MS. [PDF]

ACS Omega
Canbay E, Uzun Ç, Akçay Y, Canda E, Yazıcı H, Kalkan Uçar S, Çoker M, Yıldırım Sözmen E.   +7 more
europepmc   +1 more source