Results 31 to 40 of about 35,392 (213)

A questionnaire survey on the diagnosis and treatment of Fabry nephropathy in clinical practice [PDF]

Kidney Research and Clinical Practice, 2023
Background Fabry nephropathy is characterized by a deficiency of lysosomal alpha-galactosidase A, which results in proteinuria and kidney disease. The ineffectiveness of enzyme replacement therapy (ERT) for severe kidney failure highlights the need for ...
Soo Jeong Choi, Su Hyun Kim, Min Sung Lee, Samel Park, Eunjung Cho, Seung Seok Han, Eun Sil Koh, Byung Ha Chung, Kyung Hwan Jeong, Eun Hui Bae, Eun Young Lee, Young Joo Kwon   +11 more
doaj   +1 more source

Doença de Fabry - importância do rastreamento em córnea verticilata: relato de caso [PDF]

, 2011
Fabry disease is an X-linked disease of glycosphingolipid (GL) metabolism. The accumulation of GL in tissues can affect multiple organ systems. Initial symptoms includes episodes of severe pain in the extremities, cornea verticillata and skin lesions. In
Arantes, Tiago Eugênio Faria e, Muccioli, Cristina, Yonamine, Fabio Yamasato   +2 more
core   +2 more sources

Increased arterial diameters in the posterior cerebral circulation in men with Fabry disease.

PLoS ONE, 2014
A high load of white matter lesions and enlarged basilar arteries have been shown in selected patients with Fabry disease, a disorder associated with an increased stroke risk.
Nurcan Uçeyler, György A Homola, Hans Guerrero González, Daniela Kramer, Christoph Wanner, Frank Weidemann, László Solymosi, Claudia Sommer   +7 more
doaj   +1 more source

Lentivector Transduction Improves Outcomes Over Transplantation of Human HSCs Alone in NOD/SCID/Fabry Mice [PDF]

, 2012
Fabry disease is a lysosomal storage disorder caused by a deficiency of a-galactosidase A (a-gal A) activity that results in progressive globotriaosylceramide (Gb(3)) deposition.
Au, Bryan C. Y., Fan, Xin, Medin, Jeffrey A, Mizue, Nobuo, Pacienza, Natalia Alejandra, Takenaka, Toshihiro, Wang, James C. M., Yoshimitsu, Makoto   +7 more
core   +1 more source

Development of a highly sensitive immuno-PCR assay for the measurement of α-galactosidase A protein levels in serum and plasma.

PLoS ONE, 2013
Fabry disease is an X-linked genetic disorder caused by defects in the α-galactosidase A (GLA) gene, and heterogeneous mutations lead to quantitative and/or qualitative defects in GLA protein in male patients with Fabry disease.
Sachie Nakano, Yoshihito Morizane, Noriko Makisaka, Toshihiro Suzuki, Tadayasu Togawa, Takahiro Tsukimura, Ikuo Kawashima, Hitoshi Sakuraba, Futoshi Shibasaki   +8 more
doaj   +1 more source

Targeted literature review exploring the predictive value of estimated glomerular filtration rate and left ventricular mass index as indicators of clinical events in Fabry disease

Orphanet Journal of Rare Diseases, 2023
Background Fabry disease is a rare, progressive X-linked lysosomal storage disorder. It is caused by mutations in the GLA gene resulting in deficiency of α-galactosidase A (α-Gal A), leading to peripheral neuropathy, cardiovascular disease, stroke, end ...
Ben Haycroft, Abigail Stevenson, Richard Stork, Stuart Gaffney, Philip Morgan, Karl Patterson, Ana Jovanovic   +6 more
doaj   +1 more source

Background-deflection Brillouin microscopy reveals altered biomechanics of intracellular stress granules by ALS protein FUS [PDF]

, 2018
Altered cellular biomechanics have been implicated as key photogenic triggers in age-related diseases. An aberrant liquid-to-solid phase transition, observed in in vitro reconstituted droplets of FUS protein, has been recently proposed as a possible ...
Antonacci, Giuseppe, DE TURRIS, Valeria, Rosa, Alessandro, Ruocco, Giancarlo   +3 more
core   +3 more sources

Fabry cardiomyopathy presenting with a high defibrillation threshold: A short case report

Journal of Arrhythmia, 2015
Fabry disease is an X-linked recessive glycosphingolipid storage disorder caused by a deficiency of lysosomal enzyme α-galactosidase A. It is recognized that Fabry disease patients often have ventricular arrhythmias.
Takashi Kanda, MD, Masaharu Masuda, MD, Akihiro Sunaga, MD, Masashi Fujita, MD, PhD, Osamu Iida, MD, Shin Okamoto, MD, Takayuki Ishihara, MD, Kiyonori Nanto, MD, Tatsuya Shiraki, MD, Fusako Sera, MD, Masaaki Uematsu, MD, PhD   +10 more
doaj   +1 more source

Female Fabry disease patients and X-chromosome inactivation [PDF]

, 2018
Fabry disease is an X-linked inherited lysosomal storage disorder caused by mutations in the gene encoding α- galactosidase A (GLA). Once it was thought to affect only hemizygous males.
Gabig-Cimińska, Magdalena, Jakóbkiewicz-Banecka, Joanna, Juchniewicz, Patrycja, Kloska, Anna, Moskot, Marta, Piotrowska, Ewa, Tylki-Szymańska, Anna, Węgrzyn, Grzegorz   +7 more
core   +1 more source

Wolff-Parkinson-White and left ventricular noncompaction in a Fabry patient: A case report

Türk Kardiyoloji Derneği Arşivi, 2016
Fabry disease is the second most common inherited (X-linked recessive) lysosomal storage disease associated with multiple organ involvement. Cardiac involvement of Fabry disease varies.
Ahmet Taha Alper, Adnan Kaya, Ahmet İlker Tekkesin, Ahmet Oz   +3 more
doaj   +1 more source