LABORATORY INVESTIGATIONS PROTOCOL FOR THE DIAGNOSIS OF HEREDITARY METABOLIC DISORDERS

被引：0
|
作者：
POGGI, F
RABIER, D
VASSAULT, A
CHARPENTIER, C
KAMOUN, P
SAUDUBRAY, JM
机构：
[1] HOP NECKER ENFANTS MALAD,DEPT PEDIAT,UNITE METAB,F-75743 PARIS 15,FRANCE
[2] HOP NECKER ENFANTS MALAD,BIOCHIM LAB A,F-75743 PARIS 15,FRANCE
[3] HOP NECKER ENFANTS MALAD,BIOCHIM LAB B,F-75743 PARIS 15,FRANCE
来源：
ARCHIVES DE PEDIATRIE | 1994年 / 1卷 / 07期
关键词：
HEREDITARY METABOLIC DISEASES; LABORATORY INVESTIGATIONS AND DIAGNOSIS;
D O I：
暂无
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
The authors describe a laboratory investigations protocol to be used by pediatricians facing conditions suggestive of inherited metabolic disorders. This protocol includes: 1) an emergency screening to be systematically performed during the acute clinical phase, 2) samplings to be kept frozen for possible secondary specific investigations according to the results of the emergency screening. In addition a perimortem protocol is also presented, to be applied in every lethal situations in wich an inherited metabolic disorder is suspected The equipment required in order for the clinician to properly perform the different investigations is also described.
引用
收藏
页码：667 / 673
页数：7
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