Results 71 to 80 of about 957 (152)

Pathogenic mechanisms in Fabry disease

Frontiers in Medicine
Anderson-Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by deficient activity of the enzyme α-galactosidase A, resulting in progressive accumulation of glycosphingolipids, particularly globotriaosylceramide (Gb3), across multiple
Siming Wang, Chengyue Sun
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

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

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  

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

Plasma Globotriaosylsphingosine Level as a Primary Screening Target for Fabry Disease in Patients With Left Ventricular Hypertrophy

Circulation Journal, 2019
Although previous studies have suggested a certain prevalence of Fabry disease (FD) in left ventricular hypertrophy (LVH) patients, the screening of FD is difficult because of its wide-ranging clinical phenotypes. We aimed to clarify the utility of combined measurement of plasma globotriaosylsphingosine (lyso-Gb3) concentration and α-galactosidase A ...
Yamashita, Satoshi, Saotome, Masao, Satoh, Hiroshi, Kajihara, Jun, Mochizuki, Yusaku, Mizuno, Kimito, Nobuhara, Mamoru, Miyajima, Keisuke, Kumazawa, Azumi, Tominaga, Hiromutsu, Takase, Hiroyuki, Tawarahara, Kei, Wakahara, Nobuyuki, Matsunaga, Masaki, Wakabayashi, Yasushi, Matsumoto, Yuji, Terada, Hajime, Sano, Makoto, Ohtani, Hayato, Urushida, Tsuyoshi, Hayashi, Hideharu, Ishii, Satoshi, Maruyama, Hiroki, Maekawa, Yuichiro   +23 more
openaire   +3 more sources

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

Fabry nephropathy as the clinical anchor for kidney-centered metabolic surveillance: linking genetic heterogeneity to early risk identification

Frontiers in Genetics
Fabry disease is an X-linked lysosomal storage disorder caused by pathogenic variants in GLA, in which the kidney is a principal target organ and Fabry nephropathy is a major determinant of long-term outcome.
Yanshu Xie, Jingzi Zhong
doaj   +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

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