Results 121 to 130 of about 9,057,553 (322)

Polycystic kidney disease complicates renal pathology in a family with Fabry disease

Molecular Genetics and Metabolism Reports, 2022
Fabry disease is a rare lysosomal storage disorder that primarily affects the heart and kidneys, often presenting with reduced renal function. Polycystic kidney disease is a renal condition in which cysts are found, which have a different presentation ...
Leepakshi Johar, Grace Lee, Angela Martin-Rios, Kathy Hall, Cheng Cheng, Dawn Lombardo, Madeleine Pahl, Virginia Kimonis   +7 more
doaj  

Non-compaction cardiomyopathy – brief review [PDF]

, 2017
Left ventricular non-compaction cardiomyopathy is a genetic disorder characterized by the presence of two myocardial layers with numerous prominent trabeculations and deep inter-trabecular recesses that communicate with the ventricular cavity.
Berceanu, Mihaela, Constantin, Anca, Donoiu, Ionuț, Istrătoaie, Octavian, Militaru, Constantin, Mirea, Oana, Mănescu, Mirela, Târtea, Georgică Costinel   +7 more
core   +3 more sources

Nonsense Mutations in Rare and Ultra‐Rare Human Disorders: An Overview

IUBMB Life, Volume 77, Issue 6, June 2025.
ABSTRACT Over 7000 rare diseases have been described, collectively affecting 350 million people worldwide. Most of these conditions result from nonsense mutations, representing approximately 10% of all genetic mutations associated with human inherited diseases.
Emanuele Vitale, Davide Ricci, Federica Corrao, Ignazio Fiduccia, Ilenia Cruciata, Pietro Salvatore Carollo, Alessio Branchini, Laura Lentini, Ivana Pibiri   +8 more
wiley   +1 more source

Опыт ведения пациентов с болезнью Фабри после изменения дозы или смены препарата в процессе проведения ферментозаместительной терапии

Нервно-мышечные болезни, 2015
В связи с перебоями в поставках агалсидазы бета в 2009 г. многие пациенты с болезнью Фабри (БФ) были переведены на терапию меньшими дозами этого фермента или на лечение другим ферментом – агалсидазой альфа.

doaj  

Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN) [PDF]

, 2017
Background. In Fabry nephropathy, alpha-galactosidase deficiency leads to accumulation of glycosphingolipids in all kidney cell types, proteinuria and progressive loss of kidney function. Methods.
Barbey, Federic, Bostad, Leif, Breunig, Frank, Burns, Áine, Cook, William J., Ferluga, Dusan, Fogo, Agnes B., Geldenhuys, Laurette, Grünfeld, Jean-Pierre, Howie, Alexander J., Moll, Solange, Müller, Justus, Noël, Laure-Hélène, Oliveira, João Paulo, Reeve, Roy, Svarstad, Einar, Valbuena, Carmen, Vujkovac, Bojan, Waldek, Stephen, Warnock, David G., West, Michael, Zhang, Xiao   +21 more
core  

Fabry-betegség - Diagnosztikai útmutató [PDF]

, 2010
A Fabry-kór a lizoszomális tárolási betegségek csoportjába tartozó, X-kromoszómához kötötten, recesszív módon öröklődő betegség, amely a globotriaosylceramid felhalmozódásához vezet a szervezet legkülönbözőbb szöveteiben.
Ambrus, Csaba, Bereczki, Dániel, Bokrétás G, Constantin, Tamás, Dajnoki A, Erdős, Melinda, Fekete, György, Fiedler O, Garami, Miklós, Katona M, Kertész, Attila Béla, Kádár K, Kárpáti, Sarolta, Magyar, Pál, Mahdi, Mohamed, Maródi, László, Medvecz, Márta, Molnár, Sándor, Müller, Veronika, Nagy, Viktor, Németh K, Ponyi, Andrea, Rudas, Gábor, Rákóczi, Éva, Széchey R, Tóth, Beáta, Varga, Edit, Vastagh, Ildikó   +27 more
core   +2 more sources

Genetic testing and counseling for hypertrophic cardiomyopathy: An evidence‐based practice resource of the National Society of Genetic Counselors

Journal of Genetic Counseling, Volume 34, Issue 3, June 2025.
Abstract Hypertrophic cardiomyopathy (HCM) is a common hereditary condition affecting approximately 1 in 500 adults. It is characterized by marked clinical heterogeneity with individuals experiencing minimal to no symptoms, while others may have more severe outcomes including heart failure and sudden cardiac death.
Erin M. Miller, Emily Brown, Susan Christian, Melissa A. Kelly, Linda M. Knight, Sara Saberi, Christina Rigelsky, Jodie Ingles   +7 more
wiley   +1 more source

An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease.

Molecular Genetics and Metabolism, 2022
D. Germain, G. Altarescu, R. Barriales-Villa, R. Mignani, K. Pawlaczyk, F. Pieruzzi, W. Terryn, B. Vujkovac, A. Ortiz   +8 more
semanticscholar   +1 more source

Neurological Manifestation of Fabry Disease – A Case Report [PDF]

, 2009
Fabry disease is an X-linked recessive glycolipid storage disease. It is caused by deficiency of the lysosomal enzyme a-galactosidase A and leads to the accumulation of the enzyme substrate, globotriasylceramide (Gb3) in many tissues including ...
Milan Bitunjac, Mira Ivanković, Vanja Bašić Kes, Vida Demarin   +3 more
core   +1 more source

Discovery of a Potent α ‑ Galactosidase Inhibitor by in Situ Analysis of a Library of Pyrrolizidine − (Thio)urea Hybrid Molecules Generated via Click Chemistry [PDF]

, 2018
The parallel synthesis of a 26-membered-library of aromatic/aliphatic-(thio)urea-linked pyrrolizidines followed by in situ biological evaluation toward α -galactosidases has been carried out.
Carmona Asenjo, Ana Teresa, Elías Rodríguez, María del Pilar, Ide, Daisuke, Kato, Atsushi, Miyawaki, Shota, Moreno Vargas, Antonio José, Pingitore, Valeria, Robina Ramírez, Inmaculada, Álvarez González, Eleuterio   +8 more
core   +1 more source