Article

Methodology for Generating Datasets with Characteristic Diagnostic Parameters of Rare Diseases Using the Example of Pompe Disease, Gaucher Disease and Smith-Lemli-Opitz Syndrome

2021-11-19

Abstract excerpt

<title>Abstract</title> <p>BackgroundFinding a diagnosis for rare diseases is a challenge for patients and those treating them. Establishing a uniform methodology for specifying the symptoms of a patient seems useful. This, as well as a database with clinical parameters reported in patients already diagnosed with the corresponding disease or that have led to the diagnosis, would facilitate the global data exchang...

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Literature Corpus work: 59c3a749-ef2e-5912-896c-a99fa1d582e2
DOI: 10.21203/rs.3.rs-1077021/v1

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