(Q36130925)

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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

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Europe PubMed Central

PMC publication ID

12 August 2017

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 (English)

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Europe PubMed Central

PMC publication ID

12 August 2017

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Robert J. Desnick

4

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Robert J Desnick

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12 August 2017

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Yin-Hsiu Chien

1

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Europe PubMed Central

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12 August 2017

Ni-Chung Lee

2

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12 August 2017

Shu-Chuan Chiang

3

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12 August 2017

Wuh-Liang Hwu

5

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12 August 2017

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18 July 2012

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12 August 2017

Molecular Medicine

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12 August 2017

18

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12 August 2017

780-784

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Europe PubMed Central

PMC publication ID

12 August 2017

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Creative Commons Attribution 4.0 International

19 March 2012

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April 2022 Public Data File from Crossref

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Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke

1 reference

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2 October 2017

Screening for Fabry disease in high-risk populations: a systematic review.

1 reference

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2 October 2017

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

1 reference

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2 October 2017

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

1 reference

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2 October 2017

Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study

1 reference

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2 October 2017

Long-term safety and efficacy of enzyme replacement therapy for Fabry disease

1 reference

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2 October 2017

Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers

1 reference

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2 October 2017

Fabry disease: a mimic for obstructive hypertrophic cardiomyopathy?

1 reference

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2 October 2017

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

1 reference

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2 October 2017

Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype

1 reference

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Y-Chromosome evidence for a northward migration of modern humans into Eastern Asia during the last Ice Age

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Genetic relationship of populations in China

1 reference

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2 October 2017

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

1 reference

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2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3409276

2 July 2018

Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: the FOCUS study.

1 reference

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23 September 2018

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

1 reference

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23 September 2018

Development of a routine newborn screening protocol for severe combined immunodeficiency

1 reference

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23 September 2018

Disease manifestations and X inactivation in heterozygous females with Fabry disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3409276

23 September 2018

Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

1 reference

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23 September 2018

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

1 reference

https://api.crossref.org/works/10.2119%2FMOLMED.2012.00002

31 March 2020

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

1 reference

https://api.crossref.org/works/10.2119%2FMOLMED.2012.00002

31 March 2020

Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population

1 reference

https://api.crossref.org/works/10.2119%2FMOLMED.2012.00002

31 March 2020

Enzyme activity for determination of presence of Fabry disease in women results in 40% false-negative results

1 reference

https://api.crossref.org/works/10.2119%2FMOLMED.2012.00002

31 March 2020

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

1 reference

https://api.crossref.org/works/10.2119%2FMOLMED.2012.00002

31 March 2020

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

1 reference

https://api.crossref.org/works/10.2119%2FMOLMED.2012.00002

31 March 2020

Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease Survey

1 reference

https://api.crossref.org/works/10.2119%2FMOLMED.2012.00002

31 March 2020

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

1 reference

https://api.crossref.org/works/10.2119%2FMOLMED.2012.00002

31 March 2020

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10.2119/MOLMED.2012.00002

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

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PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

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