Results 81 to 90 of about 1,271 (166)

Ten-year-long enzyme replacement therapy shows a poor effect in alleviating giant leg ulcers in a male with Fabry disease

Molecular Genetics and Metabolism Reports, 2018
Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A (α-gal A), leading to the progressive accumulation of glycosphingolipids.
Jun Okada, Mohammad Arif Hossain, Chen Wu, Takashi Miyajima, Hiroko Yanagisawa, Keiko Akiyama, Yoshikatsu Eto   +6 more
doaj   +1 more source

Case Report: Diagnostic challenges in Fabry disease: misinterpreted obstructive hypertrophic cardiomyopathy and the role of enzyme replacement therapy

Frontiers in Cardiovascular Medicine
Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder. The abnormal accumulation of metabolic substrates induces inflammation and fibrosis in cells, resulting in organ dysfunction.
Weili Cheng, Mingqiang Ao, Dinghu Xu, Yuqing Zhang, Qin Tao   +4 more
doaj   +1 more source

Cell Transplantation Combined with Recombinant Collagen Peptides for the Treatment of Fabry Disease

Cell Transplantation, 2020
Fabry disease is caused by a decrease in or loss of the activity of alpha-galactosidase, which causes its substrates globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3) to accumulate in cells throughout the body. This accumulation results
Daisuke Kami, Masashi Yamanami, Takahiro Tsukimura, Hideki Maeda, Tadayasu Togawa, Hitoshi Sakuraba, Satoshi Gojo   +6 more
doaj   +1 more source

Globotriaosylsphingosine (lyso-Gb₃) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish cohort

, 2021
Introduction: Recent studies showed the usefulness of globotriaosylsphingosine (lyso-Gb3) and related analogues, deacylated forms of globotriaosylceramide (Gb3), for high-risk screening, treatment monitoring and follow-up for patients with Fabry disease.
Abaoui, Mona, Boutin, Michel, Auray-Blais, Christiane, Effraimidis, Grigoris, Feldt-Rasmussen, Ulla, Lavoie, Pamela, Rasmussen, Åse Krogh   +6 more
core   +1 more source

Screening for Fabry Disease in Patients With Juvenile Systemic Lupus Erythematosus

The Turkish Journal of Gastroenterology, 2020
Objectives: This study aims to determine the prevalence of Fabry disease (FD) among patients with juvenile systemic lupus erythematosus (SLE). Patients and methods: This cross-sectional study included 76 juvenile SLE patients (12 males; 64 females ...
Ertugrul KIYKIM, Sezgin ŞAHİN, Tanyel ZUBARIOĞLU, Kenan BARUT, Amra ADROVIC, Mehmet Şerif CANSEVER, Ayşe Çiğdem AKTUĞLU ZEYBEK, Özgür KASAPÇOPUR   +7 more
doaj  

Commentary on ‘Lentivirus‐mediated gene therapy for Fabry disease: 5‐year end‐of‐study results from the Canadian FACTS trial’

Clinical and Translational Discovery, Volume 5, Issue 2, April 2025.
Alessandro Rossi, Nicola Brunetti‐Pierri   +1 more
wiley   +1 more source

Late-onset renal variant Fabry disease with R112H mutation and mild increase in plasma globotriaosylsphingosine: a case report

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 ...
Keiko Tanaka, Hitoshi Sugiyama, Hitoshi Sugiyama, Hiroshi Morinaga, Akifumi Onishi, Katsuyuki Tanabe, Haruhito A. Uchida, Hiroki Maruyama, Hiroki Maruyama, Jun Wada   +9 more
doaj   +1 more source

Analysis of Lyso-Globotriaosylsphingosine in Dried Blood Spots

, 2014
Recently, lyso-globotriaosylsphingosine (lyso-Gb3) was found to be elevated in plasma of treatment naive male patients and some female patients with Fabry Disease (FD).
Johnson, Britt;Mascher, Hermann;Mascher, Daniel;Legnini, Elisa;Hung, Christina Y.;Dajnoki, Angela;Chien, Yin-Hsiu;Marodi, Laszlo;Hwu, Wuh-Liang;Bodamer, Olaf A., 胡務亮 ;簡穎秀   +1 more
core  

The FACTs trial for Fabry disease highlights the promise and challenges of gene therapy

Clinical and Translational Discovery, Volume 5, Issue 1, February 2025.
Jeffrey A. Medin, Michael L. West
wiley   +1 more source

Preclinical efficacy and safety of adeno-associated virus 5 alpha-galactosidase: A gene therapy for Fabry disease

Molecular Therapy: Methods & Clinical Development
We developed a novel adeno-associated virus 5 gene therapy (AAV5-GLA) expressing human alpha-galactosidase A (GLA) under the control of a novel, small and strong, liver-restricted promoter.
Jolanda M.P. Liefhebber, Giso Brasser, Elisabeth A. Spronck, Roelof Ottenhoff, Lieke Paerels, Maria J. Ferraz, Lukas K. Schwarz, Nikoleta Efthymiopoulou, Chi-Lin Kuo, Paula S. Montenegro-Miranda, Melvin M. Evers, Johannes M.F.G. Aerts, Ying Poi Liu   +12 more
doaj   +1 more source