Effects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A) (Q37029946)

17 August 2017

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

1 reference

enzyme replacement therapy

17 August 2017

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author name string

Hsiang-Yu Lin

1

1 reference

17 August 2017

Hao-Chuan Liu

2

1 reference

17 August 2017

Yu-Hsiu Huang

3

1 reference

17 August 2017

Hsuan-Chieh Liao

4

1 reference

17 August 2017

Ting-Rong Hsu

5

1 reference

17 August 2017

Chia-I Shen

6

1 reference

17 August 2017

Shao-Tzu Li

7

1 reference

17 August 2017

Cheng-Fang Li

8

1 reference

17 August 2017

Li-Hong Lee

9

1 reference

17 August 2017

Pi-Chang Lee

10

1 reference

17 August 2017

Chun-Kai Huang

11

1 reference

17 August 2017

Chuan-Chi Chiang

12

1 reference

17 August 2017

Ching-Yuang Lin

13

1 reference

17 August 2017

Shuan-Pei Lin

14

1 reference

17 August 2017

Dau-Ming Niu

15

1 reference

17 August 2017

16 July 2013

1 reference

17 August 2017

1 reference

17 August 2017

3

1 reference

17 August 2017

7

1 reference

Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

A new equation to estimate glomerular filtration rate

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

Agalsidase alfa and kidney dysfunction in Fabry disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

Short-term efficacy of enzyme replacement therapy in Korean patients with Fabry disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy--a retrospective analysis from the Fabry Outcome Survey.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

Enzyme replacement therapy in Japanese Fabry disease patients: the results of a phase 2 bridging study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

K/DOQI clinical practice guidelines for chronic kidney disease: evaluation, classification, and stratification

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

Prevalence of lysosomal storage disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

Left ventricular mass and body size in normotensive children and adults: assessment of allometric relations and impact of overweight.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

Enzyme replacement therapy improves cardiac features and severity of Fabry disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

Effect of growth on variability of left ventricular mass: assessment of allometric signals in adults and children and their capacity to predict cardiovascular risk

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

Tissue and plasma globotriaosylsphingosine could be a biomarker for assessing enzyme replacement therapy for Fabry disease

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

Plasma globotriaosylsphingosine as a biomarker of Fabry disease

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

Kidney function and 24-hour proteinuria in patients with Fabry disease during 36 months of agalsidase alfa enzyme replacement therapy: a Brazilian experience.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson-Fabry disease: testing the effects with the Mainz Severity Score Index.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

Enzyme replacement therapy and renal function in 201 patients with Fabry disease.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

Identification of Fabry's disease by the screening of alpha-galactosidase A activity in male and female hemodialysis patients.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

Fabry disease: overall effects of agalsidase alfa treatment

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

Recommendations for chamber quantification: a report from the American Society of Echocardiography's Guidelines and Standards Committee and the Chamber Quantification Writing Group, developed in conjunction with the European Association of Echocardio

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717460

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

20 October 2018

1 reference

12 December 2020

Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy

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

Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype

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

Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa

1 reference

12 December 2020

Agalsidase-beta therapy for advanced Fabry disease: a randomized trial

1 reference

12 December 2020

Enzyme replacement therapy in patients with Fabry's disease

1 reference

12 December 2020

10.1136/BMJOPEN-2013-003146

Identifiers

DOI

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

23864212

1 reference