Results 31 to 40 of about 1,271 (166)

The use of globotriaosylsphingosine to detect and monitor Fabry Disease [PDF]

, 2016
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by a deficiency of the α-galactosidase-A (α-gal-A) enzyme. The lack of enzymatic activity results in the accumulation of glycosphingolipids (GSLs) in the lysosomes of various tissues and
Alharbi, Fahad Jazza
core   +6 more sources

Assessing the role of glycosphingolipids in the phenotype severity of Fabry disease mouse model

Journal of Lipid Research, 2020
Fabry disease is caused by deficient activity of α-galactosidase A, an enzyme that hydrolyzes the terminal α-galactosyl moieties from glycolipids and glycoproteins, and subsequent accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb3 ...
Siamak Jabbarzadeh-Tabrizi, Michel Boutin, Taniqua S. Day, Mouna Taroua, Raphael Schiffmann, Christiane Auray-Blais, Jin-Song Shen   +6 more
doaj   +1 more source

Elevated LysoGb3 Concentration in the Neuronopathic Forms of Mucopolysaccharidoses

Diagnostics, 2020
Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders associated with impaired glycosaminoglycans (GAGs) catabolism. In MPS I, II, III, and VII, heparan sulfate (HS) cannot be degraded because of the lack of sufficient activity of the ...
Galina Baydakova, Alex Ilyushkina, Lidia Gaffke, Karolina Pierzynowska, Igor Bychkov, Agnieszka Ługowska, Grzegorz Wegrzyn, Anna Tylki-Szymanska, Ekaterina Zakharova   +8 more
doaj   +1 more source

No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy. [PDF]

PLoS ONE, 2016
Screening for Fabry disease in patients with small fiber neuropathy has been suggested, especially since Fabry disease is potentially treatable. However, the diagnostic yield of testing for Fabry disease in isolated small fiber neuropathy patients has ...
Bianca T A de Greef, Janneke G J Hoeijmakers, Emma E Wolters, Hubertus J M Smeets, Arthur van den Wijngaard, Ingemar S J Merkies, Catharina G Faber, Monique M Gerrits   +7 more
doaj   +1 more source

Screening of Male Dialysis Patients for Fabry Disease by Plasma Globotriaosylsphingosine [PDF]

Clinical Journal of the American Society of Nephrology, 2013
SummaryBackground and objectivesPrevious reports of Fabry disease screening in dialysis patients indicate thatα-galactosidase A activity alone cannot specifically and reliably identify appropriate candidates for genetic testing; a marker for secondary screening is required.
Hiroki, Maruyama, Takuma, Takata, Yutaka, Tsubata, Ryushi, Tazawa, Kiyoe, Goto, Jun, Tohyama, Ichiei, Narita, Hidekatsu, Yoshioka, Satoshi, Ishii   +8 more
openaire   +2 more sources

The Fabry disease-associated lipid Lyso-Gb3 enhances voltage-gated calcium currents in sensory neurons and causes pain [PDF]

, 2015
Fabry disease is an X-linked lysosomal storage disorder characterised by accumulation of glycosphingolipids, and accompanied by clinical manifestations, such as cardiac disorders, renal failure, pain and peripheral neuropathy.
Minett, M.S., Mitlett, MS, Kopach, O., Minett, MS, Mills, K., Wood, J.N., Choi, L., Vernon, J., Choi, Minee, Vernon, J, Kopach, O, Meert, T, Clayton, P.T., Clayton, PT, Mills, K, Wood, JN, Meert, T., Choi, L   +17 more
core   +1 more source

Urinary Globotriaosylsphingosine-Related Biomarkers for Fabry Disease Targeted by Metabolomics

, 2016
Fabry disease is a lysosomal storage disorder caused by deficiency of α-galactosidase A, resulting in glycosphingolipid accumulation in organs and tissues, including plasma and urine.
Christiane Auray-Blais (1413886), René Gagnon (2101546), Pamela Lavoie (1996201), Michel Boutin (1413883), Joe T. R. Clarke (2101549), Félix O. Dupont (2101552)   +5 more
core   +3 more sources

Progress in Diagnosis and Treatment of Children having Fabry Disease

罕见病研究, 2022
Fabry disease (FD) is a rare progressive X-linked genetic lysosomal storage disorder. Mutations of the GLA gene result in deficiency of α-galactosidase (α-Gal A), and the accumulation of glycosphingolipids, particularly globotriaosylceramide (GL-3) and ...
LI Xiaoxue, LIU Xiaorong
doaj   +1 more source

Clinical and diagnostic aspects of Fabry disease management: a narrative review with a particular focus on Brazilian experts’ perspectives

Journal of Inborn Errors of Metabolism and Screening, 2022
Research on the genetics, epidemiology, and clinical manifestations of Fabry disease (FD) has increased significantly in recent years. However, some relevant clinical questions still need to be answered to develop better approaches to patient management.
Roberto Giugliani, Sandra Marques, Luis G. M. de Andrade, André Pessoa, Maria H. Vaisbich, Angélica Blum, Fernanda Tenório, Nilton S Rosa Neto   +7 more
doaj   +1 more source

Liver Gene Therapy in Fabry Disease Mice With Low Doses of rAAV2/8 Expressing a Codon-Optimized hGLA cDNA Results in Long-Term Disease Correction. [PDF]

J Inherit Metab Dis
AAV‐mediated gene therapy targets the liver to produce and secrete into circulation functional α‐Gal A, which is taken up by tissues to reduce glycosphingolipid accumulation and prevent disease progression in juvenile Fabry mice, even at low AAV doses. ABSTRACT Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by mutations in the GLA ...
Saxena H, Domenis R, Romano G, Biasizzo J, Ferro M, Ferino D, Vicidomini A, Iaconcig A, Bortolussi G, Zentilin L, Dardis A, Muro AF.   +11 more
europepmc   +2 more sources