Newborn screening compared to clinical identification of biochemical genetic disorders.
Newborn screening compared to clinical identification of biochemical genetic disorders.
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新生儿筛查与生化遗传性疾病的临床鉴定的比较。
DOI：
10.1023/a:1022003726224
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发表时间：
2002
影响因子：
4.2
通讯作者：
NewEnglandConsortiumofMetabolicPrograms
中科院分区：
文献类型：
--
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;NewEnglandConsortiumofMetabolicPrograms
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.
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作者：
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通讯作者：
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DOI：
10.1073/pnas.94.24.13198
发表时间：
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影响因子：
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作者：
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通讯作者：
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