Discover Community Create You

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

Article

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

Orphanet journal of rare diseases - 1 Jul 2014

Hsu Ting-Rong, Sung Shih-Hsien, Chang Fu-Pang, Yang Chia-Feng, Liu Hao-Chuan, Lin Hsiang-Yu, Huang Chun-Kai, Gao He-Jin, Huang Yu-Hsiu, Liao Hsuan-Chieh, Lee Pi-Chang, Yang An-Hang, Chiang Chuan-Chi, Lin Ching-Yuang, Yu Wen-Chung, Niu Dau-Ming

Abstract excerpt

BACKGROUND: In Taiwan, DNA-based newborn screening showed a surprisingly high incidence of a cardiac Fabry mutation (IVS4 + 919G > A). The prevalence of this mutation is too high to be believed that it is a real pathogenic mutation. The purpose of this study is to identify the cardiac pathologic...

Read the complete abstract on PubMed

Topics

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

Share to Biopsy
Share to Cardiomyopathy and Myosin Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fabry Disease

Share to Hypertrophy, Left Ventricular

Share to Lysosomal Storage Disorders Research

Share to Mutation

Share to Myocardium

Source

Open in PubMed Open full text

Identifiers

PMID: 24980630
DOI: 10.1186/1750-1172-9-96
PMCID: PMC4100491

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24980630-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset Fabry mutation (IVS4 + 919G > A).PMID 24980630Read ↗

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 ↗

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

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 ↗

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

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

Clinical and genetic spectrum in Chinese families with Fabry disease: a single-centre case series.Semantic proximity Read ↗

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

Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy.Semantic proximity Read ↗

Cardiomyocyte Globotriaosylceramide Accumulation in Adult Male Patients with Fabry Disease and IVS4 + 919G>A GLA Mutation is Progressive with Age and Correlates with Left Ventricular Hypertrophy and Reduced Left Ventricular Ejection FractionSemantic 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 ↗

The Frequency of Fabry Disease in Patients with Cardiac Hypertrophy of Various Phenotypes Including Prominent Papillary Muscle: The TUCARFAB Study in Turkey.Semantic proximity Read ↗

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