Metagene Knowledgebase for Diagnostic Support of Inborn Errors of Metabolism (IEM) Metagene includes a diagnostic expert tool to identify possible diseases through laboratory values and symptoms. Diagnostic tool METAGENE Tutorial GE.pdf METAGENE Tutorial EN.pdf
Knowledgebase Knowledgebase on the internet giving information about 1150 metabolic diseases and differential diagnoses. Ressources Data maintenance is carried out regularly on the basis of publications, congress reports and personal communication. NMR-Panel Internet accessible register where quantitative NMR data for confirmed diseases are available as PDF reports (work in progress). Expert-Panel This is a communication platform where unsolved cases are discussed in a multidisciplinary format. About Us 30 years ago, we first started developing a web based knowledgebase for diagnostic support of IEM. The original approach of this disease database was developing an expert system for diagnostic support of genetic metabolic disorders. Moreover, we investigated the possibility of a computer assisted interpretation of the NMR reports. Das Video kann leider nicht wieder gegeben werden. Du findest es jedoch auch hier. Last Publication In this mini review we demonstrate the role of NMR in a multiomics platform in the field of inborn errors of metabolism. Title:Ex vivo proton spectroscopy (1H-NMR) analysis of inborn errors of metabolism: Automatic and computer-assisted analyses Magazine: NMR in Biomedicine Volume: Volume 35, Issue 12, December 2022 Format: Print and Online View review →
Ressources Data maintenance is carried out regularly on the basis of publications, congress reports and personal communication. NMR-Panel Internet accessible register where quantitative NMR data for confirmed diseases are available as PDF reports (work in progress). Expert-Panel This is a communication platform where unsolved cases are discussed in a multidisciplinary format. About Us 30 years ago, we first started developing a web based knowledgebase for diagnostic support of IEM. The original approach of this disease database was developing an expert system for diagnostic support of genetic metabolic disorders. Moreover, we investigated the possibility of a computer assisted interpretation of the NMR reports. Das Video kann leider nicht wieder gegeben werden. Du findest es jedoch auch hier. Last Publication In this mini review we demonstrate the role of NMR in a multiomics platform in the field of inborn errors of metabolism. Title:Ex vivo proton spectroscopy (1H-NMR) analysis of inborn errors of metabolism: Automatic and computer-assisted analyses Magazine: NMR in Biomedicine Volume: Volume 35, Issue 12, December 2022 Format: Print and Online View review →
NMR-Panel Internet accessible register where quantitative NMR data for confirmed diseases are available as PDF reports (work in progress). Expert-Panel This is a communication platform where unsolved cases are discussed in a multidisciplinary format. About Us 30 years ago, we first started developing a web based knowledgebase for diagnostic support of IEM. The original approach of this disease database was developing an expert system for diagnostic support of genetic metabolic disorders. Moreover, we investigated the possibility of a computer assisted interpretation of the NMR reports. Das Video kann leider nicht wieder gegeben werden. Du findest es jedoch auch hier. Last Publication In this mini review we demonstrate the role of NMR in a multiomics platform in the field of inborn errors of metabolism. Title:Ex vivo proton spectroscopy (1H-NMR) analysis of inborn errors of metabolism: Automatic and computer-assisted analyses Magazine: NMR in Biomedicine Volume: Volume 35, Issue 12, December 2022 Format: Print and Online View review →
Expert-Panel This is a communication platform where unsolved cases are discussed in a multidisciplinary format. About Us 30 years ago, we first started developing a web based knowledgebase for diagnostic support of IEM. The original approach of this disease database was developing an expert system for diagnostic support of genetic metabolic disorders. Moreover, we investigated the possibility of a computer assisted interpretation of the NMR reports. Das Video kann leider nicht wieder gegeben werden. Du findest es jedoch auch hier. Last Publication In this mini review we demonstrate the role of NMR in a multiomics platform in the field of inborn errors of metabolism. Title:Ex vivo proton spectroscopy (1H-NMR) analysis of inborn errors of metabolism: Automatic and computer-assisted analyses Magazine: NMR in Biomedicine Volume: Volume 35, Issue 12, December 2022 Format: Print and Online View review →