TY - CHAP
T1 - Knowledge Base of Inborn Errors of Metabolism (IEMbase)
T2 - A Practical Approach
AU - Av-Shalom, Tamar V.
AU - Lee, Jessica J. Y.
AU - Ferreira, Carlos R.
AU - Blau, Nenad
AU - van Karnebeek, Clara D. M.
AU - Wasserman, Wyeth W.
PY - 2022/1/1
Y1 - 2022/1/1
N2 - Here we give an overview of the inborn errors of metabolism knowledge base, or IEMbase, a comprehensive electronic repository of the IEMs described in this book. Developed as a companion application to this textbook, IEMbase provides two key functions: first, it is a free and openly available repository of the features characterizing the different IEMs; second, it has an artificial intelligence (AI) search tool to aid the diagnosis of IEMs. Given the highly specialized knowledge necessary to accurately diagnose IEMs and the necessity for timely diagnosis, it is essential that all clinicians involved in IEM diagnoses have quick access to the disease-characterizing features of known IEMs. IEMbase fills this gap by providing a highly accessible tool to aid clinicians in overcoming the barriers to IEM diagnosis.
AB - Here we give an overview of the inborn errors of metabolism knowledge base, or IEMbase, a comprehensive electronic repository of the IEMs described in this book. Developed as a companion application to this textbook, IEMbase provides two key functions: first, it is a free and openly available repository of the features characterizing the different IEMs; second, it has an artificial intelligence (AI) search tool to aid the diagnosis of IEMs. Given the highly specialized knowledge necessary to accurately diagnose IEMs and the necessity for timely diagnosis, it is essential that all clinicians involved in IEM diagnoses have quick access to the disease-characterizing features of known IEMs. IEMbase fills this gap by providing a highly accessible tool to aid clinicians in overcoming the barriers to IEM diagnosis.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85169375223&origin=inward
U2 - https://doi.org/10.1007/978-3-030-67727-5_72
DO - https://doi.org/10.1007/978-3-030-67727-5_72
M3 - Chapter
SN - 9783030721831
T3 - Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Second Edition
SP - 1449
EP - 1455
BT - Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Second Edition
PB - Springer International Publishing
ER -