Results 91 to 100 of about 35,392 (213)

Neurological complications of Anderson-Fabry disease [PDF]

, 2013
Characteristic clinical manifestations of AFD such as acroparesthesias, angiokeratoma, corneal opacity, hypo/ and anhidrosis, gastrointestinal symptoms, renal and cardiac dysfunctions can occur in male and female patients, although heterozygous females ...
Arnao, Valentina, LICATA, Giuseppe, Miceli S, Pecoraro R, PINTO, Antonio, Simonetta I, TUTTOLOMONDO, Antonino   +6 more
core   +1 more source

Increased prevalence of peripheral vestibular disorder among patients with Fabry disease

Orphanet Journal of Rare Diseases
Background Although peripheral vestibular disorder is a non-fatal complication of Fabry disease, fatalities have been reported in some case reports and case series.
Tzong-Hann Yang, Sudha Xirasagar, Yen-Fu Cheng, Chin-Shyan Chen, Herng-Ching Lin   +4 more
doaj   +1 more source

Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease [PDF]

, 2013
This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.The study has been ...
Giese, A-K, Grittner, U, Kolodny, E, Lackner, KJ, Lukas, J, Markoff, A, Mascher, H, Meyer, W, Rolfs, A, Saviouk, V, Wree, P   +10 more
core   +3 more sources

No Difference in Health Related Quality of Life Between Therapeutic Options for Type 1 Gaucher Disease [PDF]

, 2016
Type 1 Gaucher disease (GD) is the most common lysosomal storage disorder. Previously, treatment for GD was limited to intravenous enzyme replacement therapy (ERT).
Wagner, Victoria
core   +1 more source

Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy [PDF]

, 2002
Background-Although studies have suggested that "late-onset" hypertrophic cardiomyopathy (HCM) may be caused by sarcomeric protein gene mutations, the cause of HCM in the majority of patients is unknown.
Elliott, PM, Lee, P, McKenna, WJ, Sachdev, B, Takenaka, T, Tei, C, Teraguchi, H   +6 more
core   +1 more source

Fabry disease: will markers of early disease enable early treatment and better outcomes? [PDF]

, 2016
PURPOSE OF REVIEW: This review explores the clinical and pathological features of Fabry disease. New modalities of imaging, biomarkers and long-term treatment effects are discussed. RECENT FINDINGS: Fabry disease is clinically heterogeneous, and in women
Hughes, DA
core  

Safety and Tolerability of a Shorter Agalsidase Beta Infusion Time in Patients with Classic or Later-Onset Fabry Disease

Biomedicines
Background: The multisystem manifestations of Fabry disease can create major challenges in patient care. Although enzyme replacement therapy with recombinant agalsidase beta has demonstrated clinical benefits, the standard fortnightly, multi-hour ...
Dominique P. Germain, Alice Porto Vasconcelos, Lien Tran Thi Phuong, Najya Bedreddine, Mihaela Turcan, Wenting Trang, Lynda Barache   +6 more
doaj   +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

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

Exploring the burdens of women living with Fabry disease in Japan: A patient survey of 62 respondents

Molecular Genetics and Metabolism Reports
The challenges encountered by women living with Fabry disease in Japan are not well understood. This study aimed to elucidate the experiences of women with Fabry disease and their support networks from both female and male perspectives.
Masahisa Kobayashi, Ikuko Kaku, Nanae Goto, Mio Tsuchiya, Norio Sakai   +4 more
doaj   +1 more source