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新生儿代谢紊乱的国家筛查。

State screening for metabolic disorders in newborns.

作者信息

Stevens M B, Rigilano J C, Wilson C C

机构信息

San Jose Medical Center, California.

出版信息

Am Fam Physician. 1988 Apr;37(4):223-8.

PMID:3358346
Abstract

Most states have mandatory screening programs for congenital and inherited disorders of metabolism. Physicians may be unaware of their state's requirements, and compiled lists of testing requirements are generally unavailable or incomplete. All states test for congenital hypothyroidism and phenylketonuria. Some states require that newborns be tested for up to six other specific congenital and inherited disorders of metabolism. Some states base their decision to test on demographic data, but there is no uniformity in the tests.

摘要

大多数州都有针对先天性和遗传性代谢紊乱的强制筛查项目。医生可能并不知晓本州的要求,而且通常无法获取或得到不完整的检测要求汇总清单。所有州都会检测先天性甲状腺功能减退症和苯丙酮尿症。一些州要求对新生儿进行多达其他六种特定先天性和遗传性代谢紊乱的检测。一些州根据人口统计数据来决定是否进行检测,但检测项目并不统一。

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