(Q33909130)

29 July 2017

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

1 reference

left ventricular hypertrophy

29 July 2017

1 reference

Ting-Rong Hsu

1

1 reference

29 July 2017

Shih-Hsien Sung

2

1 reference

29 July 2017

Fu-Pang Chang

3

1 reference

29 July 2017

Chia-Feng Yang

4

1 reference

29 July 2017

Hao-Chuan Liu

5

1 reference

29 July 2017

Hsiang-Yu Lin

6

1 reference

29 July 2017

Chun-Kai Huang

7

1 reference

29 July 2017

He-Jin Gao

8

1 reference

29 July 2017

Yu-Hsiu Huang

9

1 reference

29 July 2017

Hsuan-Chieh Liao

10

1 reference

29 July 2017

Pi-Chang Lee

11

1 reference

29 July 2017

An-Hang Yang

12

1 reference

29 July 2017

Chuan-Chi Chiang

13

1 reference

29 July 2017

Ching-Yuang Lin

14

1 reference

29 July 2017

Wen-Chung Yu

15

1 reference

29 July 2017

Dau-Ming Niu

16

1 reference

29 July 2017

1 July 2014

1 reference

Orphanet Journal of Rare Diseases

29 July 2017

1 reference

29 July 2017

9

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29 July 2017

96

1 reference

https://scigraph.springernature.com/pub.10.1186/1750-1172-9-96

29 July 2017

0 references

cites work

Effects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Eccentric may differ from concentric left ventricular hypertrophy because of variations in cardiomyocyte numbers

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mapping

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Anderson-Fabry disease: a multiorgan disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Agalsidase benefits renal histology in young patients with Fabry disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Cardiac and skeletal myopathy in Fabry disease: a clinicopathologic correlative study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Histologically measured cardiomyocyte hypertrophy correlates with body height as strongly as with body mass index

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Cardiac challenges in patients with Fabry disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Terminal stage cardiac findings in patients with cardiac Fabry disease: an electrocardiographic, echocardiographic, and autopsy study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Myofilament degradation and dysfunction of human cardiomyocytes in Fabry disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

High incidence of later-onset fabry disease revealed by newborn screening

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Echocardiography-based left ventricular mass estimation. How should we define hypertrophy?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Recurrent strokes in a young adult patient with Fabry's disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Severe left ventricular hypertrophy in Anderson-Fabry disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Fabry disease in childhood

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Standardized myocardial segmentation and nomenclature for tomographic imaging of the heart. A statement for healthcare professionals from the Cardiac Imaging Committee of the Council on Clinical Cardiology of the American Heart Association

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Fabry disease: clinical features and recent advances in enzyme replacement therapy.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Prevalence of lysosomal storage disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Light- and electron-microscopic histochemistry of Fabry's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Echocardiographic assessment of left ventricular hypertrophy: comparison to necropsy findings.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

An Atypical Variant of Fabry's Disease with Manifestations Confined to the Myocardium

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Cardiomyocyte size estimated from noninvasive measurements of left ventricular wall thickness and chamber diameter

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Fabry disease: biochemical, pathological and structural studies of the α-galactosidase A with E66Q amino acid substitution.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A).

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Evaluation of recombinant alpha-galactosidase A therapy for amelioration of the cardiovascular manifestations of Fabry disease: an important role for endomyocardial biopsy.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Cardiac microvascular pathology in Fabry disease: evaluation of endomyocardial biopsies before and after enzyme replacement therapy.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Effects of enzyme-replacement therapy in patients with Anderson-Fabry disease: a prospective long-term cardiac magnetic resonance imaging study.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Onset and progression of the Anderson-Fabry disease related cardiomyopathy.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Fabry disease: a morphologic study of 11 cases.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Raised HDL cholesterol in Fabry disease: response to enzyme replacement therapy

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Sequelae of storage in Fabry disease--pathology and comparison with other lysosomal storage diseases

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Norepinephrine and concentric hypertrophy in patients with end-stage renal disease

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4100491

Impact of enzyme replacement therapy on cardiac morphology and function and late enhancement in Fabry's cardiomyopathy

29 October 2018

1 reference

12 December 2020

MR-based analysis of regional cardiac function in relation to cellular integrity in Fabry disease

1 reference

12 December 2020

Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment

1 reference

12 December 2020

Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study

1 reference

12 December 2020

Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome

1 reference

12 December 2020

Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. Online

1 reference

12 December 2020

An Atypical Variant of Fabry's Disease in Men with Left Ventricular Hypertrophy

1 reference

12 December 2020

1 reference

12 December 2020

Treatment of Anderson-Fabry disease

1 reference

12 December 2020

Results of a nationwide screening for Anderson-Fabry disease among dialysis patients

1 reference

12 December 2020

Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy

1 reference

12 December 2020

Effect of selective LDL-apheresis in a Fabry patient with recurrent strokes

1 reference

12 December 2020

High Incidence of the Cardiac Variant of Fabry Disease Revealed by Newborn Screening in the Taiwan Chinese Population

1 reference

12 December 2020

1 reference

12 December 2020

Mutant α-galactosidase A with M296I does not cause elevation of the plasma globotriaosylsphingosine level

1 reference

12 December 2020

The variation of morphological and functional cardiac manifestation in Fabry disease: potential implications for the time course of the disease

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-9-96

1 reference

Dimensions Publication ID

29 July 2017

1 reference

https://scigraph.springernature.com/pub.10.1186/1750-1172-9-96

9 September 2019

1 reference

29 July 2017

1 reference