IEMbase
Inborn Errors of Metabolism Knowledgebase (IEMbase) accepts an array of biochemical and clinical symptoms from a user and returns a ranked list of possible IEM disorders that match the input profile. In addition, the system can explain the rationale of its results, suggest possible tests that would assist in narrowing down the differential diagnosis, and provide access to its database of biochemical, molecular, and clinical information if more evidence is desired.
Description
More detailed information about this field from each metasource.
Inborn Errors of Metabolism Knowledgebase (IEMbase) accepts an array of biochemical and clinical symptoms from a user and returns a ranked list of possible IEM disorders that match the input profile. In addition, the system can explain the rationale of its results, suggest possible tests that would assist in narrowing down the differential diagnosis, and provide access to its database of biochemical, molecular, and clinical information if more evidence is desired.
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:58.148487
Webpage:
http://iembase.org/Webpage
More detailed information about this field from each metasource.
Publications:
Publications
More detailed information about this field from each metasource.
Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism
PMID: 28726811
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:58.148487
Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis
PMID: 29340838
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:58.148487
Publications
More detailed information about this field from each metasource.
Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism
PMID: 28726811
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:58.148487
Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis
PMID: 29340838
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:58.148487
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Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism
PubMed citations: 20.
20 articles citing: Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism
Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment. PMID:35264382
Frequency of carriers for rare metabolic diseases in a Brazilian cohort of 320 patients. PMID:35229241
Methods to Improve Molecular Diagnosis in Genomic Cold Cases in Pediatric Neurology. PMID:35205378
Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses. PMID:34304991
Inborn disorders of the malate aspartate shuttle. PMID:33990986
A cross-platform approach identifies genetic regulators of human metabolism and health. PMID:33414548
Clinical and biochemical footprints of inherited metabolic diseases. IV. Metabolic cardiovascular disease. PMID:33388235
WikiPathways: connecting communities. PMID:33211851
A systematic review of monogenic etiologies of nonimmune hydrops fetalis. PMID:33082562
metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes. PMID:32637154
DDIEM: drug database for inborn errors of metabolism. PMID:32527280
Diagnosis support systems for rare diseases: a scoping review. PMID:32299466
Xrare: a machine learning method jointly modeling phenotypes and genetic evidence for rare disease diagnosis. PMID:30675030
The utility of phenomics in diagnosis of inherited metabolic disorders. PMID:30651242
Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions. PMID:30559706
A proposed nosology of inborn errors of metabolism. PMID:29884839
Think big - think omics. PMID:29541953
Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients. PMID:29453510
The role of the clinician in the multi-omics era: are you ready? PMID:29362952
Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis. PMID:29340838 -
Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis
PubMed citations: 1.
1 articles citing: Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis
The utility of phenomics in diagnosis of inherited metabolic disorders. PMID:30651242
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medicine
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:58.148487
biomarkers
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:58.148487
metabolomics
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:58.148487
rare diseases
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:58.148487
Tags
More detailed information about this field from each metasource.
medicine
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:58.148487
biomarkers
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:58.148487
metabolomics
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:58.148487
rare diseases
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:58.148487
medicine biomarkers metabolomics rare diseases
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