Identification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report.

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Identification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report.

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http://www.wikidata.org/entity/Q36173385

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2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

@zh

2016年论文

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Identification of a novel GLA ...... ry nephropathy: a case report.

@ast

Identification of a novel GLA ...... ry nephropathy: a case report.

@en

type

Item

label

Identification of a novel GLA ...... ry nephropathy: a case report.

@ast

Identification of a novel GLA ...... ry nephropathy: a case report.

@en

prefLabel

Identification of a novel GLA ...... ry nephropathy: a case report.

@ast

Identification of a novel GLA ...... ry nephropathy: a case report.

@en

P1476

Identification of a novel GLA ...... ry nephropathy: a case report.

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P2093

Eun Sil Koh

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Ho-Shik Kim

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Minyoung Kim

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Seok Joon Shin

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P2860

Lessons from 30 years' data of Korean end-stage renal disease registry, 1985-2015

Predicting the effects of amino acid substitutions on protein function

Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry.

Safety and tissue yield for percutaneous native kidney biopsy according to practitioner and ultrasound technique.

Structure-function relationships in alpha-galactosidase A.

De novo mutation in a male patient with Fabry disease: a case report.

Use of tandem mass spectrometry for newborn screening of 6 lysosomal storage disorders in a Korean population

Late diagnosis of Fabry disease caused by a de novo mutation in a patient with end stage renal disease.

Screening for Fabry disease in left ventricular hypertrophy: documentation of a novel mutation.

Identification of a novel GLA mutation (F69 L) in a Japanese patient with late-onset Fabry disease.

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s12881-016-0338-7

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scholarly article

case report

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10.1186/S12881-016-0338-7

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Yosep Chong

Sungjin Chung

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2016-10-24T00:00:00Z

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1027650834

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27776503

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5078899

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