Newborn screening for lysosomal storage disorders

被引：11

作者：

Millington, DS ^{[1
]}

机构：

[1] Duke Univ, Ctr Med, Biochem Genet Lab, Res Triangle Pk, NC 27709 USA

来源：

CLINICAL CHEMISTRY | 2005年 / 51卷 / 05期

关键词：

D O I：

10.1373/clinchem.2005.048553

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

引用

页码：808 / 809

页数：2

共 20 条

[1]

Chace DH, 1996, CLIN CHEM, V42, P349

[2]

CHACE DH, 1995, CLIN CHEM, V41, P62

[3]

CHACE DH, 1993, CLIN CHEM, V39, P66

[4]

Chace DH, 1997, CLIN CHEM, V43, P2106

[5] Gaucher and Niemann-Pick diseases - enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards [J].

Chamoles, NA ;

Blanco, M ;

Gaggioli, D ;

Casentini, C .

CLINICA CHIMICA ACTA, 2002, 317 (1-2) :191-197

[6] Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards [J].

Chamoles, NA ;

Blanco, M ;

Gaggioli, D ;

Casentini, C .

CLINICA CHIMICA ACTA, 2002, 318 (1-2) :133-137

[7]

Chamoles NA, 2001, CLIN CHEM, V47, P780

[8] Fabry disease: enzymatic diagnosis in dried blood spots on filter paper [J].

Chamoles, NA ;

Blanco, M ;

Gaggioli, D .

CLINICA CHIMICA ACTA, 2001, 308 (1-2) :195-196

[9] Enzyme replacement and enhancement therapies for lysosomal diseases [J].

Desnick, RJ .

JOURNAL OF INHERITED METABOLIC DISEASE, 2004, 27 (03) :385-410

[10] Direct profiling of multiple enzyme activities in human cell lysates by affinity chromatography/electrospray ionization mass spectrometry: Application to clinical enzymology [J].

Gerber, SA ;

Scott, CR ;

Turecek, F ;

Gelb, MH .

ANALYTICAL CHEMISTRY, 2001, 73 (08) :1651-1657

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