Prenatal diagnosis of Fabry disease

被引：22

作者：

Desnick, Robert J. ^{[1
]}

机构：

[1] CUNY Mt Sinai Sch Med, Dept Genet & Genom Sci, New York, NY 10029 USA

来源：

PRENATAL DIAGNOSIS | 2007年 / 27卷 / 08期

关键词：

D O I：

10.1002/pd.1767

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：693 / 694

页数：2

共 18 条

[1] Agalsidase-beta therapy for advanced Fabry disease - A randomized trial [J].

Banikazemi, Maryam ;

Bultas, Jan ;

Waldek, Stephen ;

Wilcox, William R. ;

Whitley, Chester B. ;

McDonald, Marie ;

Finkel, Richard ;

Packman, Seymour ;

Bichet, Daniel G. ;

Warnock, David G. ;

Desnick, Robert J. .

ANNALS OF INTERNAL MEDICINE, 2007, 146 (02) :77-86

[2] FABRY DISEASE - 6 GENE REARRANGEMENTS AND AN EXONIC POINT MUTATION IN THE ALPHA-GALACTOSIDASE GENE [J].

BERNSTEIN, HS ;

BISHOP, DF ;

ASTRIN, KH ;

KORNREICH, R ;

ENG, CM ;

SAKURABA, H ;

DESNICK, RJ .

JOURNAL OF CLINICAL INVESTIGATION, 1989, 83 (04) :1390-1399

[3] FABRYS DISEASE - ANTENATAL DETECTION [J].

BRADY, RO ;

UHLENDORF, BW ;

JACOBSON, CB .

SCIENCE, 1971, 172 (3979) :174-+

[4]

Caggana M, 1997, AM J MED GENET, V71, P329, DOI 10.1002/(SICI)1096-8628(19970822)71:3<329::AID-AJMG14>3.3.CO

[5]

2-T

[6]

DESNICK RJ, 1973, J PEDIATR-US, V83, P149

[7]

Desnick RobertJ., 2001, The Metabolic and Molecular Bases of Inherited Disease, V8th, P3733, DOI DOI 10.1036/ommbid.181

[8] Safety and efficacy of recombinant human α-galactosidase a replacement therapy in Fabry's disease. [J].

Eng, CM ;

Guffon, N ;

Wilcox, WR ;

Germain, DP ;

Lee, P ;

Waldek, S ;

Caplan, L ;

Linthorst, GE ;

Desnick, RJ .

NEW ENGLAND JOURNAL OF MEDICINE, 2001, 345 (01) :9-16

[9] Sustained, long-term renal stabilization after 54 months of agalsidase β therapy in patients with Fabry disease [J].

Germain, Dominique P. ;

Waldek, Stephen ;

Banikazemi, Maryam ;

Bushinsky, David A. ;

Charrow, Joel ;

Desnick, Robert J. ;

Lee, Philip ;

Loew, Thomas ;

Vedder, Anouk C. ;

Abichandani, Rekha ;

Wilcox, William R. ;

Guffon, Nathalie .

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2007, 18 (05) :1547-1557

[10]

KINT J A, 1970, Science (Washington D C), V167, P1268, DOI 10.1126/science.167.3922.1268

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