Newborn screening of inherited metabolic disease in Korea
نویسندگان
چکیده
منابع مشابه
Newborn Screening for inherited metabolic disorders; news and views
Newborn screening is important for the early detection of many congenital genetic and metabolic disorders, aimed at the earliest possible recognition and management of affected newborns, to prevent the morbidity, mortality, and disabilities associated with an inherited metabolic disorder. This comprehensive system includes; testing, education, follow up, diagnosis, treatment, management, and ev...
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Over large parts of the world all newborn infants are, in principle or in practice, examined by some biochemical technique for phenylketonuria. This revolutionary practice is barely 10 years old; it is worth considering how it started and why it has spread. Until the development of a dietary treatment, phenylketonuria was considered, like the other inborn errors of metabolism, a suitable subjec...
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Inborn errors of metabolism are inherited biochemical disorders caused by lack of a functional enzyme, transmembrane transporter, or similar protein, which then results in blockage of the corresponding metabolic pathway. Taken individually, inborn errors of metabolism are rare. However, as a group these diseases are relatively frequent and they may account for most of neonatal mortality and nee...
متن کاملA Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening
BACKGROUND A newborn screening (NBS) program has been utilized to detect asymptomatic newborns with inherited metabolic diseases (IMDs). There have been some bottlenecks such as false-positives and imprecision in the current NBS tests. To overcome these issues, we developed a multigene panel for IMD testing and investigated the utility of our integrated screening model in a routine NBS environm...
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N OPPORTUNITY to establish screening procedures for case-finding in a numher of metabolic diseases now exists in the United States, because most infants are l)orn in hospitals where appropriate screening can easily be carried out. Case-finding in the neonatal period facilitates early inauguration of therapy, genetic counseling, and improved understanding of the natural history and incidence of ...
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ژورنال
عنوان ژورنال: Korean Journal of Pediatrics
سال: 2006
ISSN: 1738-1061
DOI: 10.3345/kjp.2006.49.11.1125