Rational design of cell active C2-modified DGJ analogues for the inhibition of human α-galactosidase A (GALA)

2021 ◽  
Vol 19 (37) ◽  
pp. 8057-8062
Author(s):  
Roger A. Ashmus ◽  
Yang Wang ◽  
Manuel González-Cuesta ◽  
Dustin T. King ◽  
Ben Tiet ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Rational Design ◽  
Disease Patient ◽  
Selective Inhibitor ◽  
Fabry Disease Patient

A selective inhibitor of GALA reduces Gb3 levels by over half within Fabry disease patient fibroblasts.

The ultrastructural characteristics of eccrine sweat glands in a Fabry disease patient with hypohidrosis

1998 ◽  
Vol 18 (2) ◽  
pp. 109-117 ◽  
Author(s):  
Li-Min Lao ◽  
Masanobu Kumakiri ◽  
Hiroshi Mima ◽  
Hiroaki Kuwahara ◽  
Hisaya Ishida ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Disease Patient ◽  
Sweat Glands ◽  
Ultrastructural Characteristics ◽  
Fabry Disease Patient ◽  
Eccrine Sweat Glands ◽  
Eccrine Sweat

A histochemical and electron microscopic study of skeletal and cardiac muscle from a Fabry disease patient and carrier

1995 ◽  
Vol 90 (3) ◽  
pp. 334-338 ◽  
Author(s):  
Makoto Uchino ◽  
Eiichiro Uyama ◽  
Hiroaki Kawano ◽  
Jun Hokamaki ◽  
Kiyotaka Kugiyama ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Cardiac Muscle ◽  
Microscopic Study ◽  
Electron Microscopic Study ◽  
Disease Patient ◽  
Electron Microscopic ◽  
Fabry Disease Patient

scholarly journals Case report of a 45-year old female Fabry disease patient carrying two alpha-galactosidase A gene mutation alleles

2016 ◽  
Vol 17 (1) ◽  
Author(s):  
Daniel Oder ◽  
Dorothee Vergho ◽  
Georg Ertl ◽  
Christoph Wanner ◽  
Peter Nordbeck
Keyword(s):  
Case Report ◽  
Fabry Disease ◽  
Gene Mutation ◽  
Disease Patient ◽  
Alpha Galactosidase ◽  
Fabry Disease Patient

A male Fabry disease patient treated with intravenous thrombolysis for acute ischemic stroke

2015 ◽  
Vol 22 (2) ◽  
pp. 423-425 ◽  
Author(s):  
Jukka T. Saarinen ◽  
Niko Sillanpää ◽  
Ilkka Kantola
Keyword(s):  
Ischemic Stroke ◽  
Fabry Disease ◽  
Acute Ischemic Stroke ◽  
Disease Patient ◽  
Intravenous Thrombolysis ◽  
Fabry Disease Patient

scholarly journals Development of the Fabry Disease Patient-Reported Outcome (FD-PRO): a new instrument to measure the symptoms and impacts of Fabry Disease

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Alaa Hamed ◽  
Pronabesh DasMahapatra ◽  
Nicole Lyn ◽  
Chad Gwaltney ◽  
Robert J. Hopkin
Keyword(s):  
Neuropathic Pain ◽  
Fabry Disease ◽  
Disease Patient ◽  
Signs And Symptoms ◽  
Patient Reported Outcome ◽  
Stomach Pain ◽  
Patient Reported ◽  
Treatment Naïve ◽  
Fabry Disease Patient ◽  
Disease Specific

Abstract Background The systematic collection of disease-specific symptoms and impacts on the lives of patients with Fabry Disease (FD) can offer unique insights into the patient experience, yet no disease-specific tool to measure FD symptoms exists. This study describes the development of the Fabry Disease Patient-Reported Outcome (FD-PRO). Methods A targeted literature search, interviews with key opinion leaders (KOLs), and concept elicitation (CE) interviews with patients identified the most frequent signs and symptoms associated with FD and their impact on daily life. Cognitive interviews evaluated patients’ ability to understand the FD-PRO instructions and respond to the items on the draft FD-PRO instrument. Results The targeted literature search identified key signs and symptoms in domains that were confirmed in KOL interviews. In CE interviews with 37 treated and treatment-naïve patients, neuropathic pain symptoms (95% treated, 82% treatment-naïve), temperature intolerance (95% treated, 88% treatment-naïve), energy difficulties (95% treated, 94% treatment-naïve), hearing/vision impairment (95% treated, 71% treatment-naïve), and gastrointestinal symptoms (80% treated, 59% treatment-naïve) were most frequently mentioned. Results were similar for men and women in both treated and treatment-naïve groups. While treatment-naïve patients in general expressed fewer and milder symptoms compared to treated patients, the overall sets of symptoms expressed by the two groups were similar. The most severe symptoms were neuropathic pain, stomach pain, burning pain, and fatigue. The most bothersome symptoms were stomach pain, breathing difficulty, fatigue, neuropathic pain, and constipation. The most frequent impacts were in the work/school limitations domain for both treated and treatment-naïve patients. The impacts with the highest difficulty ratings were stress, limited outdoor activity, and guilt. Cognitive interviews with 14 treated and treatment-naïve patients resulted in the refinement of FD-PRO items and language. Conclusions The FD-PRO is a novel, disease-specific instrument that measures the patient experience in Fabry disease. Such tools are valuable in capturing the burden of disease in patients with FD and demonstrating the value of treatment in clinical trials.

A histochemical and electron microscopic study of skeletal and cardiac muscle from a Fabry disease patient and carrier

1995 ◽  
Vol 90 (3) ◽  
pp. 334-338
Author(s):  
M. Uchino ◽  
Eiichiro Uyama ◽  
Hiroaki Kawano ◽  
J. Hokamaki ◽  
Kiyotaka Kugiyama ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Cardiac Muscle ◽  
Microscopic Study ◽  
Electron Microscopic Study ◽  
Disease Patient ◽  
Electron Microscopic ◽  
Fabry Disease Patient

A new method to visualize abnormal lipid accumulation in tissues from Fabry disease patient using Raman spectroscopic marker of globotriaosylceramide

2017 ◽  
Vol 381 ◽  
pp. 700-701
Author(s):  
Y. Nagashima ◽  
A. Iwata ◽  
K. Yoshioka ◽  
J. Omachi ◽  
J. Shimizu ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Lipid Accumulation ◽  
Disease Patient ◽  
New Method ◽  
Raman Spectroscopic ◽  
Fabry Disease Patient

scholarly journals Fabry disease patient-reported outcome (FD-PRO) demonstrates robust measurement properties for assessing symptom severity in Fabry disease

2021 ◽  
Vol 29 ◽  
pp. 100824
Author(s):  
Alaa Hamed ◽  
Pronabesh DasMahapatra ◽  
Nicole Lyn ◽  
Chad Gwaltney ◽  
Charlie Iaconangelo ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Symptom Severity ◽  
Disease Patient ◽  
Patient Reported Outcome ◽  
Measurement Properties ◽  
Patient Reported ◽  
Fabry Disease Patient

scholarly journals Induced pluripotent stem cell line (INSAi002-A) from a Fabry Disease patient hemizygote for the rare p.W287X mutation

2020 ◽  
Vol 45 ◽  
pp. 101794
Author(s):  
Ana Joana Duarte ◽  
Diogo Ribeiro ◽  
Renato Santos ◽  
Luciana Moreira ◽  
José Bragança ◽  
...  
Keyword(s):  
Stem Cell ◽  
Fabry Disease ◽  
Cell Line ◽  
Pluripotent Stem Cell ◽  
Disease Patient ◽  
Induced Pluripotent Stem Cell ◽  
Stem Cell Line ◽  
Induced Pluripotent ◽  
Fabry Disease Patient

Biomarker analysis of Fabry disease patient cell fractions using tandem mass spectrometry

2016 ◽  
Vol 117 (2) ◽  
pp. S114
Author(s):  
Amanda Toupin ◽  
Pamela Lavoie ◽  
Michel Boutin ◽  
Mona Abaoui ◽  
Anne-Marie Côté ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Fabry Disease ◽  
Disease Patient ◽  
Tandem Mass ◽  
Biomarker Analysis ◽  
Fabry Disease Patient ◽  
Cell Fractions ◽  
Patient Cell
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