80-lecie fenyloketonurii. Cz ęść III: Charles E. Dent – biochemik-naukowiec i klinicysta, który dostrzegł piętno choroby matki u potomstwa i zrutynizował badanie profilu aminokwasów

Publication date: Available online 16 January 2017 Source:Pediatria Polska Author(s): Kamil K. Hozyasz The aim of this paper was to provide information on the first observations of maternal phenylketonuria syndrome. 60 years ago, in 1957, CE Dent's and GA Jervis's discussion of a paper by Dr MD Armstrong “The relation of the biochemical abnormality to the development of the mental defect in phenylketonuria” was published. Moreover, scientific and clinical work, as well as impressive biography of Charles E. Dent, was reviewed. Dent was always looking for new techniques and new ideas to apply to inherited errors of metabolism. He was elected Fellow of the Royal Society in 1962. Role of communications during conferences and case reports may vary according to the clinical specialty. Undoubtedly, such reports will help communicate detailed aspects of a clinical observation in rare inborn errors of metabolism.
Source: Pediatria Polska - Category: Pediatrics Source Type: research