Expanded newborn screening: Long term follow up of 25 patients with organic acidemias and urea cycle disorders

Trefz FK, Töpel T, Scheible D, Frauendienst-Egger G, Hofestädt R. Expanded newborn screening: Long term follow up of 25 patients with organic acidemias and urea cycle disorders. JOURNAL OF INHERITED METABOLIC DISEASE. 2006;29(Suppl. 1):84

www.ramedis.de: Database for long term follow up of patients with rare metabolic diseases

Trefz FK, Töpel T, Scheible D, Frauendienst-Egger G, Hofestädt R. www.ramedis.de: Database for long term follow up of patients with rare metabolic diseases. JOURNAL OF INHERITED METABOLIC DISEASE. 2006;29(Suppl. 1):84

METAGENE and RAMEDIS: databases for metabolic diseases and patients with inborn errors on metabolism

Trefz F, Scheible D, Götz H, Töpel T, Hofestädt R, Frauendienst-Egger G. METAGENE and RAMEDIS: databases for metabolic diseases and patients with inborn errors on metabolism. Journal of Inherited Metabolic Disease. 2008;31:289

Expanded newborn screening: Long-term follow up of 63 patients screened by tandem mass spectrometry

Scheible D, Töpel T, Frauendienst-Egger G, Hofestädt R, Wallner S, Trefz FK. Expanded newborn screening: Long-term follow up of 63 patients screened by tandem mass spectrometry. JOURNAL OF INHERITED METABOLIC DISEASE. 2007;30(Suppl. 1):3

Harnstoffzykluserkrankungen und Organoazidämien: Aufnahme in das erweiterte Neugeborenen-Screening?

Trefz FK, Scheible D, Frauendienst-Egger G, et al. Harnstoffzykluserkrankungen und Organoazidämien: Aufnahme in das erweiterte Neugeborenen-Screening? Pädiatrie hautnah,. 2005;17(8):19-20

Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism

Purpose: Recognizing individuals with inherited diseases can be difficult because signs and symptoms often overlap those of common medical conditions. Focusing on inborn errors of metabolism (IEMs), we present a method that brings the knowledge of highly specialized experts to professionals involved in early diagnoses. We introduce IEMbase, an online expert-curated IEM knowledge base combined with a prototype diagnosis support (mini-expert) system. Methods: Disease-characterizing profiles of specific biochemical markers and clinical symptoms were extracted from an expert-compiled IEM database. A mini-expert system algorithm was developed using cosine similarity and semantic similarity. The system was evaluated using 190 retrospective cases with established diagnoses, collected from 15 different metabolic centers. Results: IEMbase provides 530 well-defined IEM profiles and matches a user-provided phenotypic profile to a list of candidate diagnoses/genes. The mini-expert system matched 62% of the retrospective cases to the exact diagnosis and 86% of the cases to a correct diagnosis within the top five candidates. The use of biochemical features in IEM annotations resulted in 41% more exact phenotype matches than clinical features alone. Conclusion: IEMbase offers a central IEM knowledge repository for many genetic diagnostic centers and clinical communities seeking support in the diagnosis of IEM