Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.

doi:10.1016/j.jacc.2016.09.943

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.

Journal of the American College of Cardiology - 13 Dec 2016

Hsu Ting-Rong, Hung Sheng-Che, Chang Fu-Pang, Yu Wen-Chung, Sung Shih-Hsien, Hsu Chia-Lin, Dzhagalov Ivan, Yang Chia-Feng, Chu Tzu-Hung, Lee Han-Jui, Lu Yung-Hsiu, Chang Sheng-Kai, Liao Hsuan-Chieh, Lin Hsiang-Yu, Liao Tsan-Chieh, Lee Pi-Chang, Li Hsing-Yuan, Yang An-Hang, Ho Hui-Chen, Chiang Chuan-Chi, Lin Ching-Yuang, Desnick Robert J, Niu Dau-Ming

Abstract excerpt

BACKGROUND: Recently, several studies revealed a much higher prevalence of later onset Fabry disease (FD) than previously expected. It suggested that later onset FD might present as an important hidden health issue in certain ethnic or demographic populations in the world. However, the natural history of its phenotype has not been systemically investigated, especially the cardiac involvement. OBJECTIVES: The...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Age of Onset

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to alpha-Galactosidase

Share to Echocardiography

Share to Fabry Disease

Share to Hypertrophy, Left Ventricular

Share to Neonatal Screening

Share to Prevalence

Share to Taiwan

Source

Open in PubMed

Identifiers

PMID: 27931613
DOI: 10.1016/j.jacc.2016.09.943

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.PMID 27931613Read ↗

Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset Fabry mutation (IVS4 + 919G > A).Semantic proximity Read ↗

Two diseases presenting only as cardiac hypertrophy: differences between the late-onset Fabry disease cardiac variant and hypertrophic cardiomyopathy.Semantic proximity Read ↗

Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A).Semantic proximity Read ↗

Correlations between Endomyocardial Biopsies and Cardiac Manifestations in Taiwanese Patients with the Chinese Hotspot IVS4+919G>A Mutation: Data from the Fabry Outcome Survey.Semantic proximity Read ↗

Biomarkers associated with clinical manifestations in Fabry disease patients with a late-onset cardiac variant mutation.Semantic proximity Read ↗

Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A).Semantic proximity Read ↗

Deciphering the diagnostic dilemma: A comprehensive review of the Taiwanese cardiac variant in Fabry disease.Semantic proximity Read ↗

Fabry disease cardiomyopathy: A state-of-the-art review.Semantic proximity Read ↗

High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population.Semantic proximity Read ↗

Fabry disease cardiomyopathy: A practical guide for cardiologists.Semantic proximity Read ↗

Interleukin-18 deteriorates Fabry cardiomyopathy and contributes to the development of left ventricular hypertrophy in Fabry patients with GLA IVS4+919 G>A mutation.Semantic proximity Read ↗

Fabry disease with early-onset ventricular dilation: A case report.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.