Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). (Q34993215)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19621417%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

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

1 reference

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2 February 2020

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1

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2 February 2020

Yin-Hsiu Chien

2

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2 February 2020

Ni-Chung Lee

3

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2 February 2020

Robert Dobrovolny

5

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2 February 2020

11

Robert J Desnick

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2 February 2020

4

Shu-Chuan Chiang

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2 February 2020

7

Hui-Ying Yeh

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2 February 2020

8

May-Chin Chao

1 reference

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2 February 2020

9

Shio-Jean Lin

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2 February 2020

author name string

Ai-Chu Huang

6

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2 February 2020

Teruo Kitagawa

10

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2 February 2020

Li-Wen Hsu

12

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2 February 2020

publication date

1 October 2009

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2 February 2020

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2 February 2020

volume

30

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2 February 2020

page(s)

1397-1405

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2 February 2020

issue

10

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Fabry disease: guidelines for the evaluation and management of multi-organ system involvement

2 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769558

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769558

Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769558

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769558

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769558

Fabry disease in childhood

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769558

Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769558

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769558

Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769558

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769558

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769558

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769558

Prevalence of lysosomal storage disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769558

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769558

Point mutations in the upstream region of the ?-galactosidase A gene exon 6 in an atypical variant of Fabry disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769558

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769558

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769558

The ratio of alpha-galactosidase to beta-glucuronidase activities in dried blood for the identification of female Fabry disease patients.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769558

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769558

Human Gene Mutation Database (HGMD): 2003 update.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769558

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

26 October 2018

1 reference

12 December 2020

Fabry disease: enzymatic diagnosis in dried blood spots on filter paper

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele

1 reference

12 December 2020

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

1 reference

12 December 2020

Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease

1 reference

12 December 2020

An atypical variant of Fabry's disease in men with left ventricular hypertrophy

1 reference

12 December 2020

Fabry disease: the need to stratify patient populations to better understand the outcome of enzyme replacement therapy

1 reference

12 December 2020

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

1 reference

12 December 2020

Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.21074

1 reference

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2 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19621417%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference