Results 91 to 100 of about 1,271 (166)

NGAL as a Biomarker of Tubular Injury and Glomerular Dysfunction in Fabry Nephropathy

Cells
Fabry disease (FD) is an X-linked lysosomal disorder caused by pathogenic variants in the GLA gene, resulting in α-galactosidase A deficiency and accumulation of Gb3/lyso-Gb3 (globotriaosylceramide/globotriaosylsphingosine) in cells, including podocytes ...
Margarita M. Ivanova, Julia Dao, Leah Svarny, Emily Nguyen, Sahithi Ponnam, Ozlem Goker-Alpan   +5 more
doaj   +1 more source

A Proteomics-Based Analysis Reveals Predictive Biological Patterns in Fabry Disease

, 2020
International audienceBackground: Fabry disease (FD) is an X-linked progressive lysosomal disease (LD) due to glycosphingolipid metabolism impairment. Currently, plasmatic globotriaosylsphingosine (LysoGb3) is used for disease diagnosis and monitoring ...
Abily-Donval, Lénaïg, Berger, Marc, Mauhin, Wladimir, Noel, Esther, Nadjar, Yann, Berger, Juliette, Bekri, Soumeya, Tebani, Abdellah, Wladimir Mauhin, Olivier Lidove, Lesueur, Céline, Lamari, Foudil, Oliver Benveniste, Marret, Stéphane, Yann Nadjar, Stéphane Marret, Foudil Lamari, Juliette Berger, Lenaig Abily-Donval, Laforêt, Pascal, Marc G. Berger, Lidove, Olivier, Benveniste, Oliver, Pascal Laforêt, Soumeya Bekri, Esther Noel, Abdellah Tebani, Céline Lesueur   +27 more
core   +1 more source

Females with Fabry disease: an expert opinion on diagnosis, clinical management, current challenges and unmet needs

Frontiers in Cardiovascular Medicine
Females with Fabry disease (FD) often have a milder phenotype, later symptom onset, and slower disease progression than males, causing delayed diagnosis and undertreatment.
Antonino Tuttolomondo, Cristina Chimenti, Vittoria Cianci, Maurizio Gallieni, Chiara Lanzillo, Antonella La Russa, Giuseppe Limongelli, Renzo Mignani, Renzo Mignani, Iacopo Olivotto, Federico Pieruzzi, Federico Pieruzzi, Antonio Pisani   +12 more
doaj   +1 more source

Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance

, 2015
Item does not contain fulltextFabry disease' (FD) phenotype is heterogeneous: alpha-galactosidase A gene mutations (GLA) can lead to classical or non-classical FD, or no FD. The aim of this study is to describe pitfalls in diagnosing non-classical FD and
Bergh-Weerman, M.A. van den, Smid, B. E., Deprez, R.H.L., Lekanne Deprez, R. H., Kok, W. E. M., Timmermans, J., Smid, B.E., Poorthuis, B. J. H. M., Florquin, S., Kok, W.E., Poorthuis, B.J.H.M., Hollak, C. E. M., Linthorst, G. E., van den Bergh Weerman, M. A., Linthorst, G.E., Hollak, C.E.M.   +15 more
core   +1 more source

Lyso-globotriaosylsphingosine (lyso-Gb(3)) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G > A mutation

, 2014
Lyso-globotriaosylsphingosine (lyso-Gb(3)) is a useful biomarker in the diagnosis and monitoring of treatment for Fabry disease. However, it is unclear whether lyso-Gb(3) is elevated in patients with later-onset Fabry disease. Thus, we measured lyso-Gb(3)
胡務亮 ;簡穎秀 ;蔣書娟, Chien, Yin-Hsiu;Bodamer, Olaf A.;Chiang, Shu-Chuan;Mascher, Hermann;Hung, Christina;Hwu, Wuh-Liang   +1 more
core   +1 more source

The Role of Kidney Biopsy in Fabry Disease

Biomedicines
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to α-galactosidase A deficiency and subsequent accumulation of glycosphingolipids, including globotriaosylceramide (Gb3) and ...
Irene Capelli, Laura Martano, Gian Marco Berti, Gisella Vischini, Sarah Lerario, Vincenzo Donadio, Alex Incensi, Valeria Aiello, Francesca Ciurli, Benedetta Fabbrizio, Stefano Chilotti, Renzo Mignani, Gianandrea Pasquinelli, Gaetano La Manna   +13 more
doaj   +1 more source

Relative versus Absolute Globotriaosylsphingosine Changes and Kidney Outcomes in Fabry Disease

Background Plasma globotriaosylsphingosine (lyso-Gb3) levels decrease after enzyme replacement therapy (ERT) in patients with Fabry disease (FD). However, it remains unclear whether absolute or relative changes in lyso-Gb3 levels more accurately reflect ...
Shunsuke Goto, Toshiyuki Hirai, Hideki Fujii, Hayaki Okamoto, Mika Fujita, Momoko Tabuchi   +5 more
core   +1 more source

UPLC-MS/MS High-Risk Screening for Sphingolipidoses Using Dried Urine Spots

Biomolecules
Background: Early detection of sphingolipidoses is crucial to prevent irreversible complications and improve patient outcomes. The use of urine samples dried on filter paper (DUS) is a non-invasive strategy that simplifies the collection, storage, and ...
Tristan Martineau, Bruno Maranda, Christiane Auray-Blais   +2 more
doaj   +1 more source

Profiles of Globotriaosylsphingosine Analogs and Globotriaosylceramide Isoforms Accumulated in Body Fluids from Various Phenotypic Fabry Patients

Internal Medicine
Objectives Fabry disease is characterized by the systemic accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (Lyso-Gb3), which are widely used as biomarkers of the disease. However, few reports have described the relationship of Lyso-Gb3 analogs and Gb3 isoforms with the disease.
Shiga, Tomoko, Tsukimura, Takahiro, Kubota, Takao, Togawa, Tadayasu, Sakuraba, Hitoshi   +4 more
openaire   +2 more sources

Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation - Fig 4

, 2018
Correlation analyses: (1) Plasma globotriaosylsphingosine (Lyso-Gb3) and plasma α-Gal A activity for males N215S (A; n = 13), males non-N215S (B; n = 9), females N215S (C; n = 25), and females non-N215S (D; n = 36).
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