Results 31 to 40 of about 11,284 (188)

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   +1 more source

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

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

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

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

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

Patient-reported experience with Fabry disease and its management in the real-world setting: results from a double-blind, cross-sectional survey of 280 respondents

Orphanet Journal of Rare Diseases
Background Fabry disease (FD) is a rare X-linked lysosomal storage disorder with a heterogeneous clinical presentation. Patients with FD may exhibit early signs/symptoms including neuropathic pain, gastrointestinal complaints, and dermatologic ...
Lisa Berry, Jerry Walter, Jack Johnson, Julia Alton, Janet Powers, Xavier Llòria, Irene Koulinska, Meghan McGee, Dawn Laney   +8 more
doaj   +1 more source

Echocardiography in Fabry Disease [PDF]

Cardiogenetics, 2013
Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency. The genetic defect leads to progressive intracellular accumulation of Gl3 in various tissues, including heart, kidney, vascular endothelium and the nervous system.
Markus Niemann, Frank Weidemann
openaire   +2 more sources

A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem

Orphanet Journal of Rare Diseases
People with rare lysosomal storage diseases face challenges in their care that arise from disease complexity and heterogeneity, compounded by many healthcare professionals being unfamiliar with these diseases.
T. L. Klein, J. Bender, S. Bolton, T. Collin-Histed, A. Daher, L. De Baere, D. Dong, J. Hopkin, J. Johnson, T. Lai, M. Pavlou, T. Schaller, I. Žnidar   +12 more
doaj   +1 more source

British National Formulary Guidance on prescribing in pregnancy: A descriptive cross‐sectional study

British Journal of Clinical Pharmacology, EarlyView.
Aim To assess how well pregnancy‐specific guidance within the British National Formulary supports healthcare professionals to facilitate safe and effective medication use. Methods We performed a manifest content analysis of the text of all pregnancy sections within British National Formulary drug monographs, with inductive and iterative coding.
Hannah Johnson, Cleodie Swire, Lakshiv Dhingra, Toqa El‐Nahhas, Michelle Essiam, Salma Muse, Maria Tonkova, Nazmin Begum, Joan Morris, Emma Baker   +9 more
wiley   +1 more source