Results 131 to 140 of about 2,063 (198)

A specific, sensitive, simplified and fast LC-MS/MS method for plasma Lyso-GB3 levels

, 2020
Sezer, Ebru/0000-0002-6900 ...
Sezer, E., Canbay, E., Ucar, S. Kalkan, Coker, M., Sozmen, E.   +4 more
openaire   +1 more source

The human plasma lipidome [PDF]

, 2012
Ortiz, Alberto, Sánchez-Niño, María Dolores   +1 more
core   +1 more source

Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A) [PDF]

, 2014
Haochuan Liu, Hsiang-Yu Lin, Chia‐Feng Yang, Hsuan-Chieh Liao, Ting‐Rong Hsu, Chiao‐Wei Lo, Fu‐Pang Chang, Chun‐Kai Huang, Yung-Hsiu Lu, Shuan‐Pei Lin, Wen‐Chung Yu, Dau‐Ming Niu   +11 more
openalex   +1 more source

P031: Fabry disease: Genotype/phenotype correlations for 17 novel GLA mutations by GLA activity and plasma Lyso-Gb3 levels

, 2023
Neal Cody, Yu Leng Phua, Wenjiao Li, Irina Nazarenko, Brandon Stauffer, Hongjie Chen, Jing Xiao, Lisa Edelmann, Ruth Kornreich, Chunli Yu, Robert J. Desnick   +10 more
openalex   +1 more source

Analyse quantitative des isoformes méthylés et non-méthylés du globotriaosylcéramide par spectrométrie de masse en tandem pour la maladie de Fabry [PDF]

, 2016
La maladie de Fabry est une maladie génétique lysosomale causée par une mutation dans le gène GLA codant pour la protéine alpha-galactosidase A. Cette déficience a pour effet de mener à l’accumulation de plusieurs métabolites dans les liquides ...
Abaoui, Mona
core   +1 more source

Author response for "Accuracy diagnosis improvement of Fabry disease from dried blood spots: enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing"

, 2020
Rocío Delarosa‐Rodríguez, José Diego Santotoribio, Paula Hernandez-Arevalo, Antonio González‐Meneses, José Salvador García Morillo, Pilar Jiménez‐Arriscado, Juan M. Guerrero, Hada C. Macher   +7 more
openalex   +1 more source

Screening for Fabry disease in patients with left ventricular hypertrophy in China: A multicentre and prospective study

ESC Heart Failure
Aims Left ventricular hypertrophy (LVH) is frequently detected via echocardiography in individuals with Fabry disease (FD), sometimes leading to confusion with hypertrophic cardiomyopathy (HCM) of other aetiologies.
Zongwei Lin, Xinyu Zhang, Yan Liu, Dongxia Miao, Huanyi Zhang, Tao Zhang, Fenglei Zhang, Peng Li, Hongyan Dai, Guihua Jiang, Dongxia Zhang, Lin Zhong, Huixia Lu, Xiaoping Ji   +13 more
doaj   +1 more source

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

, 2022
K Azimpour, E Kim, Mihaela Georgiana Musat, L Monfort, E Cha   +4 more
openalex   +1 more source

Author response for "Accuracy diagnosis improvement of Fabry disease from dried blood spots: enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing"

, 2021
Rocío Delarosa‐Rodríguez, José Diego Santotoribio, Paula Hernandez-Arevalo, Antonio González‐Meneses, José Salvador García Morillo, Pilar Jiménez‐Arriscado, Juan M. Guerrero, Hada C. Macher   +7 more
openalex   +1 more source

Die Entwicklung von zwei HPLC-MS/MS Methoden zur Detektion von LYSO-GB3 im Serum und Sulfatiden im Harn

, 2022
Introduction: Globotriaosylsphingosine (Lyso-Gb3) is used as a biomarker to aid in the diagnosis of Fabry disease. Fabry disease is an X-linked inherited lysosomal storage disorder characterized by decreased activity of α-galactosidase A. Urinary sulfatide determination is used to diagnose metachromatic leukodystrophy (MLD), which is also a lysosomal ...
openaire   +1 more source