Results 91 to 100 of about 5,245,219 (176)

Demographic, renal and audiometric data of Fabry disease patients.

, 2019
Demographic, renal and audiometric data of Fabry disease patients.
Ulla Feldt-Rasmussen (317604), Lars Holme Nielsen (8098301), Jørgen Holm Petersen (4049383), Søren Schwartz Sørensen (4049389), Lars Køber (242946), Åse Krogh Rasmussen (8098304), Puriya Daniel Yazdanfard (8098298), Alka Seth (8098307), Christoffer Valdorff Madsen (4049380)   +8 more
core   +1 more source

Generation of an induced pluripotent stem cell line (SMBCi022-A) from a patient with Fabry disease

Stem Cell Research
Fabry disease (FD) is a systemic disease in which globotriaosylceramide and other naturally occurring glycosphingolipid accumulate in various tissues throughout the body due to mutation of α-galactosidase A (GLA).
Zihan Li, Jing Luan, Yali Yang, Guowei Li, Zhouhui Hu, Che Yu, Yazhou Cui, Jinxiang Han   +7 more
doaj   +1 more source

European “Smart-4-Fabry” project to develop a new nanomedicine for the treatment of Fabry disease [PDF]

, 2019
El projecte europeu «Smart-4-Fabry» té com a objectiu principal desenvolupar una nova nanomedicina, basada en l’encapsulació de l’enzim α-galactosidasa A en nanoliposomes, per al tractament de la malaltia ...
Tomsen-Melero, Judit, González-Mira, Elisabet, Segovia, Nathaly, Veciana, Jaume, Ventosa, Nora   +4 more
core   +1 more source

Improving a data mining based diagnostic support tool for rare diseases on the example of M. Fabry: Gender differences need to be taken into account.

PLoS ONE
BackgroundRare diseases often present with a variety of clinical symptoms and therefore are challenging to diagnose. Fabry disease is an x-linked rare metabolic disorder. The severity of symptoms is usually different in men and women.
Philipp Hahn, Werner Lechner, Rainer-Georg Siefen, Christina Lampe, Peter Nordbeck, Lorenz Grigull, Thomas Lücke   +6 more
doaj   +1 more source

Using artificial intelligence and promoter-level transcriptome analysis to identify a biomarker as a possible prognostic predictor of cardiac complications in male patients with Fabry disease

Molecular Genetics and Metabolism Reports
Fabry disease is the most frequently occurring form of lysosomal disease in Japan, and is characterized by a wide variety of conditions. Primarily, the three major types of concerns associated with Fabry disease observed during adulthood that must be ...
Hiroshi Kobayashi, Norio Nakata, Sayoko Izuka, Kenichi Hongo, Masako Nishikawa   +4 more
doaj   +1 more source

Australian Standards of Care for Genetic and Genomic Testing in Kidney Disease, Chapter 11

Internal Medicine Journal, Volume 56, Issue S5, Page 35-36, November 2026.
Sadia Jahan, Julia Jefferis, Jacqueline Soraru, Chirag Patel, Erik Biros, Trudie Harris, Kushani Jayasinghe, Amali Mallawaarachchi, Zornitza Stark, Andrew J. Mallett, on behalf of the KidGen Guidelines Working Group   +10 more
wiley   +1 more source

Bilateral avascular necrosis: A rare complication of Fabry disease

Molecular Genetics and Metabolism Reports
Fabry disease is a rare X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene, which encodes for the α–galactosidase A enzyme responsible for degrading globotriaosylceramide.
Candela Romano, Joel Wells, Nicholas Stanzione, Virginia Kimonis   +3 more
doaj   +1 more source

Genotypes and phenotypes of the Danish Fabry disease patient population.

, 2019
Genotypes and phenotypes of the Danish Fabry disease patient population.
Ulla Feldt-Rasmussen (317604), Lars Holme Nielsen (8098301), Jørgen Holm Petersen (4049383), Søren Schwartz Sørensen (4049389), Lars Køber (242946), Åse Krogh Rasmussen (8098304), Puriya Daniel Yazdanfard (8098298), Alka Seth (8098307), Christoffer Valdorff Madsen (4049380)   +8 more
core   +1 more source

DIAGNOSIS OF ANDERSON-FABRY DISEASE [PDF]

, 2018
Anderson-Fabryjeva bolest je nakon Gaucherove bolesti najčešća lizosomalna bolest nakupljanja. Bolest se nasljeđuje X-vezano recesivno. Karakterizirana je smanjenom aktivnošću enzimaIntroduction: Anderson- Fabry disease is one of the most common ...
JURAŠIĆ, MILJENKA JELENA, ZADRO MATOVINA, LUCIJA, BAŠIĆ KES, VANJA, GRBIĆ, NEVENA, ZAVOREO, IRIS   +4 more
core   +1 more source

Fabry Disease with Anterior Ischemic Optic Neuropathy

, 2014
Fabry disease is a X-linked inherited lysosomal storage disease due to the absence or reduction of ?-galactosidase A activity. Anterior ischemic optic neuropathy (AION) has rarely been reported in Fabry disease.
An-Guor Wang; Chiao-Ying Liang; May-Yung Yen
core