Yuan, Yujing Zhao, Yawen Li, Fan Ling, Chen Wu, Yuan Ma, Wei Wang, Zhaoxia Yuan, Yun Hao, Hongjun Zhang, Wei
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Published in
Frontiers in Immunology
Objectives The aim of this study is to explore the expression of inflammatory cytokines (ICs) in Fabry disease (FD), the correlation between ICs and FD phenotypes, and the impact of enzyme replacement therapy (ERT) on IC expression. Methods We recruited 67 FD patients and 44 healthy controls (HCs) and detected concentrations of the following ICs: i...
Gjorgjievski, Nikola Karanfilovski, Vlatko Arsov, Todor Vidimliski, Pavlina Dzekova Andreevska, Galisna Severeova Selim, Gjulshen Dejanov, Petar Jordanova, Vasilena Marinova, Ivelina Paskalev, Emil
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Published in
Frontiers in Genetics
Introduction Fabry disease is a rare X-linked lysosomal storage disorder caused by α-galactosidase A (α-Gal A) deficiency. Reduced or absent enzyme activity causes progressive lysosomal accumulation of globotriaosylceramide (Lyso-Gb3) in various cells throughout the body to trigger inflammation and fibrosis. Case description We present the first fa...
Mauhin, Wladimir Dzangue-Tchoupou, Gaelle Amelin, Damien Corneau, Aurélien Lamari, Foudil Allenbach, Yves Dussol, Bertrand Leguy-Seguin, Vanessa d'Halluin, Pauline Matignon, Marie
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Fabry disease (FD) is an X-linked disease characterized by an accumulation of glycosphingolipids, notably of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lysoGb3) leading to renal failure, cardiomyopathy, and cerebral strokes. Inflammatory processes are involved in the pathophysiology. We investigated the immunological phenotype of per...
Hwu, Wuh-Liang
Published in
Journal of the Formosan Medical Association = Taiwan yi zhi
Molecular diagnosis has undergone rapid and significant advancements in recent years. But because molecular diagnosis can be conducted independently of phenotype, it can engender ambiguity and potential misinterpretations in disease diagnosis. Fabry disease, an X-linked lysosomal storage disorder, arises from a deficiency in α-galactosidase A. In 2...
Kurdi, Hibba Lavalle, Lucia Moon, James C. C. Hughes, Derralynn
Published in
Frontiers in Cardiovascular Medicine
Fabry disease, a multisystem X-linked disorder caused by mutations in the alpha-galactosidase gene. This leads to the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (Lyso-Gb3), culminating in various clinical signs and symptoms that significantly impact quality of life. Although treatments such as enzyme replacement, oral ...
Tanaka, Keiko Sugiyama, Hitoshi Morinaga, Hiroshi Onishi, Akifumi Tanabe, Katsuyuki Uchida, Haruhito A. Maruyama, Hiroki Wada, Jun
Fabry disease (FD) is an X-linked disorder resulting in a deficiency of alpha-galactosidase A (GLA) activity. The R112H mutation of GLA is relatively common in Japanese FD patients, characterized by a late-onset phenotype, almost normal to mild lyso-Gb3 elevation, and mild clinical symptoms, despite low GLA activity. This is due to the structural f...
Tanaka, Keiko Sugiyama, Hitoshi Morinaga, Hiroshi Onishi, Akifumi Tanabe, Katsuyuki Uchida, Haruhito A. Maruyama, Hiroki Wada, Jun
Published in
Frontiers in Medicine
Fabry disease (FD) is an X-linked disorder resulting in a deficiency of α-galactosidase A (GLA) activity. The R112H mutation of GLA is relatively common in Japanese FD patients, characterized by a late-onset phenotype, almost normal to mild lyso-Gb3 elevation, and mild clinical symptoms, despite low GLA activity. This is due to the structural featu...
Shiga, Tomoko Tsukimura, Takahiro Kubota, Takao Togawa, Tadayasu Sakuraba, Hitoshi
Published in
Internal medicine (Tokyo, Japan)
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. The present study determined the profiles of Ly...
Ivanuša, Nuša
Fabryjeva bolezen je redka genetska bolezen, za katero je značilna zmanjšana aktivnost encima α-galaktozidaze A, ki vodi v kopičenje substratov encima, kar se odraža v prizadetosti več organskih sistemov. Heterogena klinična slika otežuje hitro diagnostiko, ki pa je zaradi napredovanja bolezni ključnega pomena. Trenutni diagnostični algoritem temel...
Kersebaum, Dilara Sendel, Manon Lassen, Josephine Fabig, Sophie-Charlotte Forstenpointner, Julia Reimer, Maren Canaan-Kühl, Sima Gaedeke, Jens Rehm, Stefanie Gierthmühlen, Janne
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Published in
Frontiers in Pain Research
Background Fabry disease (FD) causes cold-evoked pain and impaired cold perception through small fiber damage, which also occurs in polyneuropathies (PNP) of other origins. The integrity of thinly myelinated fibers and the spinothalamic tract is assessable by cold-evoked potentials (CEPs). In this study, we aimed to assess the clinical value of CEP...
