Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.

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Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.

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2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年論文

@yue

2017年論文

@zh-hant

2017年論文

@zh-hk

2017年論文

@zh-mo

2017年論文

@zh-tw

2017年论文

@wuu

2017年论文

@zh

2017年论文

@zh-cn

name

Clinical characteristics and m ...... nosis of late-onset phenotype.

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type

Item

label

Clinical characteristics and m ...... nosis of late-onset phenotype.

@en

prefLabel

Clinical characteristics and m ...... nosis of late-onset phenotype.

@en

P1476

Clinical characteristics and m ...... gnosis of late-onset phenotype

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P2093

Beom Hee Lee

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Chan-Duck Kim

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Dae-Seong Kim

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Dong-Hwan Lee

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Geu-Ru Hong

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Gu-Hwan Kim

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Han-Wook Yoo

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Hoon Kook

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Jeong-Sook Seo

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Jin-Ho Choi

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P2860

Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease

Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey

Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry

Enzyme replacement therapy in Fabry disease: a randomized controlled trial.

Serum globotriaosylceramide assay as a screening test for fabry disease in patients with ESRD on maintenance dialysis in Korea

Prevalence of lysosomal storage disorders.

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

Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy

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

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

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e7387

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scholarly article

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10.1097/MD.0000000000007387

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English

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P478

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Han Hyuk Lim

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2017-07-01T00:00:00Z

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28723748

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5521888

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