Identification of new α-galactosidase A mutation responsible for Fabry disease: A case report

被引：4

作者：

Battaglia, Yuri ^{[1
]}

Scalia, Simone ^{[2
]}

Rinaldi, Rosa ^{[3
]}

Storari, Alda ^{[1
]}

Mignani, Renzo ^{[4
]}

Russo, Domenico ^{[5
]}

Duro, Giovanni ^{[2
]}

机构：

[1] Univ Hosp St Anna, Nephrol & Dialysis Unit, Ferrara, Italy

[2] CNR, Inst Biomed & Mol Immunol IBIM, Palermo, Italy

[3] Univ Hosp St Anna, Anat Pathol Unit, Ferrara, Italy

[4] Infermi Hosp, Dept Nephrol & Dialysis, Rimini, Italy

[5] Univ Naples Federico II, Dept Publ Hlth, Naples, Italy

来源：

CLINICAL NEPHROLOGY | 2019年 / 91卷 / 02期

关键词：

D O I：

10.5414/CN109501

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：126 / 128

页数：3

共 6 条

[1]

[Anonymous], 2001, METABOLIC MOL BASIS

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Blanco, M ;

Gaggioli, D .

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[3]

Colomba P., 2015, CARDIOGENETICS, V5, P5612, DOI [10.4081/cardiogenetics.2015.5612, DOI 10.4081/CARDIOGENETICS.2015.5612]

[4] Fabry disease [J].

Germain, Dominique P. .

ORPHANET JOURNAL OF RARE DISEASES, 2010, 5

[5] Fabry Disease-Often Seen, Rarely Diagnosed [J].

Hoffmann, Bjoern ;

Mayatepek, Ertan .

DEUTSCHES ARZTEBLATT INTERNATIONAL, 2009, 106 (26) :440-II

[6] NUCLEOTIDE-SEQUENCE OF THE HUMAN ALPHA-GALACTOSIDASE-A GENE [J].

KORNREICH, R ;

DESNICK, RJ ;

BISHOP, DF .

NUCLEIC ACIDS RESEARCH, 1989, 17 (08) :3301-3302

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