Newborn screening compared to clinical identification of biochemical genetic disorders

被引：9

作者：

Waisbren, SE

Read, CY

Ampola, M

Brewster, TG

Demmer, L

Greenstein, R

Ingham, CL

Korson, M

Msall, M

Pueschel, S

Seashore, M

Shih, VE

Levy, HL

机构：

[1] Childrens Hosp, Inborn Errors Metab Clin, Boston, MA 02115 USA

[2] Boston Coll, Sch Nursing, Chestnut Hill, MA 02167 USA

[3] Tufts Univ New England Med Ctr, Boston, MA 02111 USA

[4] Maine Med Ctr, Portland, ME 04102 USA

[5] Univ Massachusetts, Med Ctr, Worcester, MA USA

[6] Connecticut Childrens Med Ctr, Hartford, CT USA

[7] Vermont Dept Hlth, Burlington, VT 05402 USA

[8] Rhode Isl Hosp, Providence, RI USA

[9] Yale Univ, Sch Med, New Haven, CT USA

[10] Massachusetts Gen Hosp, Boston, MA 02114 USA

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2002年 / 25卷 / 07期

关键词：

D O I：

10.1023/A:1022003726224

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A group of 28 patients with inherited metabolic disease (homocystinuria galactosaemia, maple syrup urine disease and biotinidase deficiency) diagnosed by screening were compared with a group of 17 similar patients identified clinically. The rate of hospitalization was similar for the two groups. The patients diagnosed clinically showed a higher incidence of mental retardation and their parents experienced greater stress and found greater difficulty in meeting their child's needs.

引用

页码：599 / 600

页数：2

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