User Guide
Why can I only view 3 results?
You can also view all results when you are connected from the network of member institutions only. For non-member institutions, we are opening a 1-month free trial version if institution officials apply.
So many results that aren't mine?
References in many bibliographies are sometimes referred to as "Surname, I", so the citations of academics whose Surname and initials are the same may occasionally interfere. This problem is often the case with citation indexes all over the world.
How can I see only citations to my article?
After searching the name of your article, you can see the references to the article you selected as soon as you click on the details section.
Institutional References Quartile Statistics FAQ User Guide Contact us
Institutional Application Application for Journals
Türkçe English
 Views 6
Menu
Mendeley
Endnote
p.R220L Is a Likely Pathogenic Novel GLA Gene Mutation Responsible for Fabry Disease
2022
Journal:  
The Anatolian Journal of Cardiology
Author:  
DOI:  
10.5152/AnatolJCardiol.2021.393
Abstract:

Fabry disease is a progressive and rare storage disease that occurs due to low or complete deficiency of lysosomal alpha galactosidase-A (α-GLA) enzyme activity. Low alpha galactosidase-A enzyme activity causes progressive accumulation of globotriaosylceramide in various tissues and organs including the myocardium, kidney, and nervous system. Left ventricular hypertrophy (LVH) is the most common cause of cardiac involvement in patients with Fabry disease. Over a thousand different mutations have been identified in the GLA gene up to now. We describe a case of a 54-year-old male with Fabry disease due to a novel GLA gene mutation.

Keywords:

0
2022
Journal:  
The Anatolian Journal of Cardiology
Author:  
DOI:  
10.5152/AnatolJCardiol.2021.393
Citation Owners
Information: There is no ciation to this publication.
Similar Articles
1. The Frequency of Fabry Disease in Patients with Cardiac Hypertrophy of Various Phenotypes Including Prominent Papillary Muscle: The TUCARFAB Study in Turkey
2023


  Details
 Download PDF
2. Fabry Disease: A Turkish Case with a Novel Mutation and Dermatological Manifestations
2015


  Details
 Download PDF
3. Fabry Hastalığı
2013


  Details
 Download PDF
4. Lysosomal acid lipase deficiency in a 6-year-old child: case report
2020


  Details
 Download PDF
5. Mutational analysis of ARSB gene in mucopolysaccharidosis type VI: identification of three novel mutations in Iranian patients
2018


  Details
 Download PDF
6. Fabry disease screening in kidney transplant patients: A single-center study in Türkiye
2022


  Details
 Download PDF
The Anatolian Journal of Cardiology

Field :   Sağlık Bilimleri

Journal Type :   Uluslararası

Metrics
Article : 507
Cite : 218
2023 Impact : 0.101
Details
The Anatolian Journal of Cardiology