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
收藏
页码：599 / 600
页数：2
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