Results 31 to 40 of about 982 (163)

Status and frontiers of Fabre disease [PDF]

Orphanet Journal of Rare Diseases
Fabry disease is characterized by an X sex chromosome gene mutation caused by α-galactosidase A deficiency, resulting in the accumulation of globotriaosylceramide and globotriaosylsphingosine in various organs, which induces end-organ lesions.
Wei Chu, Min Chen, Xiaoqin Lv, Sheng Lu, Changyan Wang, Limin Yin, Linyan Qian, Jiana Shi   +7 more
doaj   +2 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

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

Globotriaosylsphingosine improves risk stratification of kidney progression in Fabry disease patients

Clinica Chimica Acta
Kidney damage is common in patients with Fabry disease (FD), but more accurate information about the risk of progression to kidney failure is needed for clinical decision-making. In particular, FD patients with mild renal involvement often lack timely intervention and treatment. We aimed to utilize a model to predict the risk of renal progression in FD
Yan Ouyang, Wei Zhang, Zhanzheng Zhao, Chaohui Wang, Hong Ren, Jingyuan Xie, Xiao Li, Pingyan Shen, Hao Shi, Jing Xu, Yaowen Xu, Weiming Wang, Yang Li, Xialian Yu, Weihong Chen, Yawen Zhao, Zheng Wang, Yifan Wu, Nan Chen, Xiaoxia Pan   +19 more
openalex   +3 more sources

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

The role of globotriaosylsphingosine in the diagnosis of Fabry disease in Russian patients

Nauchno-prakticheskii zhurnal «Medicinskaia genetika», 2020
Болезнь Фабри (БФ), MIM 301500 - Х-сцепленное заболевание, обусловленное мутациями в гене GLA, который кодирует фермент α-галактозидазу А (α-гал А). В 2017 году в лаборатории молекулярной генетики и медицинской геномики «НМИЦ здоровья детей» Министерства Здравоохранения России был разработан и внедрен метод определения концентрации лизо-Гб3 для ...
Н Н Мазанова, А. А. Пушков, А. В. Пахомов, А. Ю. Асанов, К. В. Савостьянов   +4 more
openalex   +4 more sources

A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels [PDF]

Human Genome Variation, 2017
A pilot study of newborn screening for Fabry disease was performed in Okinawa, Japan. A total of 2,443 neonates were screened using dried blood spot samples over 7 years starting in 2007. Of 13 neonates determined to have low α-galactosidase A (GLA) activity, one boy had a new missense mutation, p.G144D of the GLA gene.
Yasutsugu Chinen, Sadao Nakamura, Tomohide Yoshida, Hiroki Maruyama, Kimitoshi Nakamura   +4 more
openalex   +3 more sources

Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2010
Fabry disease is treated by two-weekly infusions with α-galactosidase A, which is deficient in this X-linked globotriaosylceramide (Gb3) storage disorder. Elevated plasma globotriaosylsphingosine (lysoGb3) is a hallmark of classical Fabry disease.
Mariëlle J. van Breemen, Saskia M. Rombach, Nick Dekker, Ben J. Poorthuis, Gabor E. Linthorst, Aeilko H. Zwinderman, Frank Breunig, Christoph Wanner, Johannes M. F. G. Aerts, Carla E. M. Hollak   +9 more
openalex   +6 more sources