ISSN:
1432-1076
Keywords:
Key words: Hereditary metabolic disorders – Selective screening – Collaborative study
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract. Since the early 1970s selective screening for inherited metabolic disorders has been performed in larger childrens hospitals or metabolic centres of the former East-Germany. As a rule the following methods were employed: initially paper chromatography, drop, dip and spot tests, later on thin-layer chromatography and more recently enzyme analysis, gas chromatography, mass spectrometry and HPLC. Normally urine, blood or leucocytes were investigated. The diagnoses were confirmed in metabolic centres in Greifswald, Berlin or Leipzig or in collaboration with specialized laboratories abroad. About 130 000 subjects from former East Germany as well as from different East European countries were investigated, of which 365 patients were diagnosed and classified into roughly 40 various metabolic diseases. The proportion of positive diagnoses was 1 in 400.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF02138771
