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PubMed · 7673782

Metabolic screening.

T F Thurmon
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Abstract

The time-honored concept of utilization of the laboratory for screening for metabolic diseases has taken on new meaning in the face of the extensive heterogeneity of genetic diseases that has been revealed by DNA research. Some of the conditions for which screening was used in the past are now known to produce physically identifiable features so more definitive tests may be utilized for them. There remains a set of diseases that are difficult to characterize physically and it is for these that screening tests are most needed. Initial screening procedures for most of them are available in most general hospitals but comprehensive screening is usually done in biochemical genetics laboratories. Numerous and somewhat arcane bedside screening tests have been replaced by a short list of more modern procedures which are much more accurate and reliable.

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EpilepsyHumansInfant, NewbornIntellectual DisabilityMetabolism, Inborn ErrorsNeonatal ScreeningJournal ArticleReview

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BibTeXRIS

T F Thurmon. 1995. Metabolic screening.. https://pubmed.ncbi.nlm.nih.gov/7673782/

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