Objetivo Inherited metabolic disorders are a major cause of infant mortality in eastern and western Europe and at present about 3500 different disorders are known. This high number combined with the low incidence of each individual disease often makes their diagnosis difficult and requires demonstration of the corresponding metabolic defect at the molecular level. Once the diagnosis has been established, therapeutic measures can be taken. Moreover, the parents can be advised as to the recurrence risk for future children and the possibilities of prenatal diagnosis. A considerable number of these diseases is caused by a deficiency of a specific enzyme, which can be demonstrated in the clinical genetics laboratory. Many of these enzyme assays are very time-consuming and subject to fluctuations which limit the diagnostic services of the enzyme laboratory.The aim of this project is to replace these cumbersome assays with simple, accurate assays, which will facilitate and broaden the diagnostic services of the enzyme laboratory. New potential fluorogenic substrates will be designed, synthesised and tested. This approach has proved successful during the last few years for four different diseases. Since these new substrates have commercial value they will provide a considerable and lasting income for the Russian laboratory where they were synthesised. Programa(s) IC-INTAS - International Association for the promotion of cooperation with scientists from the independent states of the former Soviet Union (INTAS), 1993- Tema(s) 43 - Physiology and Fundamental Medical Science Convocatoria de propuestas Data not available Régimen de financiación Data not available Coordinador Erasmus University Rotterdam Aportación de la UE Sin datos Dirección 3000 DR Rotterdam Países Bajos Ver en el mapa Coste total Sin datos Participantes (3) Ordenar alfabéticamente Ordenar por aportación de la UE Ampliar todo Contraer todo Institute of Child Health Reino Unido Aportación de la UE Sin datos Dirección 30 Guildford Street WC1N 1EH London Ver en el mapa Coste total Sin datos Russian Academy of Sciences Rusia Aportación de la UE Sin datos Dirección 119832 Moscow Ver en el mapa Coste total Sin datos Russian Academy of Sciences,Institute of Biomedical Chemistry, Laboratory of Biochemistry and Rusia Aportación de la UE Sin datos Dirección 119832 Moscow Ver en el mapa Coste total Sin datos
