Newborn Screening for Mucopolysaccharidosis I: Moving Forward Learning from Experience

被引：9

作者：

Clarke, Lorne A. ^{[1
]}

Dickson, Patricia ^{[2
]}

Ellinwood, N. Matthew ^{[3
]}

Klein, Terri L. ^{[3
]}

机构：

[1] Univ British Columbia, BC Childrens Hosp Res Inst, Dept Med Genet, Vancouver, BC V5Z 4H4, Canada

[2] Washington Univ, Sch Med, Dept Pediat, St Louis, MO 63110 USA

[3] Natl MPS Soc, Durham, NC 27707 USA

来源：

INTERNATIONAL JOURNAL OF NEONATAL SCREENING | 2020年 / 6卷 / 04期

关键词：

lysosomal storage disease; mucopolysaccharidoses; glycosaminoglycans; pseudodeficiency; ENZYME-REPLACEMENT THERAPY; DIAGNOSIS; IMPROVES;

D O I：

10.3390/ijns6040091

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

There have been significant advances allowing for the integration of mucopolysaccharidosis I into newborn screening programs. Initial experiences using a single-tier approach for this disorder have highlighted shortcomings that require immediate remediation. The recent evaluation of a second-tier biomarker integrated into the MPS I newborn screening protocol has been demonstrated to greatly improve the precision and predictive value of newborn screening for this disorder. This commentary urges newborn screening programs to learn from these experiences and improve newborn screening for mucopolysaccharidosis I and future mucopolysaccharidoses newborn screening programs by implementation of a second-tier biomarker analyte.

引用

页数：5

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