Ultramicro assays of enzymes for rapid and inexpensive diagnosis of inherited disorders of metabolism

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Abstract

This article summarizes simple ultramicro assays for enzyme activities in cultured human fibroblasts and their application to rapid diagnosis of inherited disorders of metabolism. This technique reduces the time and cost of culturing sufficient fibroblasts, and biochemical reagents. The methods are simple, requiring little equipment other than a lyophilizer, a constant temperature and humidity room, a fluorimeter and liquid scintillation counter. More than 35 disorders have been so diagnosed. The techniques are particularly valuable for rapid prenatal diagnosis with cultured amniotic fluid cells.

Original languageEnglish (US)
Pages (from-to)133-135
Number of pages3
JournalThe Indian Journal of Pediatrics
Volume48
Issue number2
DOIs
StatePublished - Mar 1981
Externally publishedYes

Keywords

  • Inherited disorders
  • Prenatal diagnosis
  • Ultramicro enzyme assays

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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