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Additional file 1: of Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

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NIAID Data Ecosystem2026-03-10 收录
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https://figshare.com/articles/dataset/Additional_file_1_of_Urea_cycle_disorders_in_India_clinical_course_biochemical_and_genetic_investigations_and_prenatal_testing/7155473
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资源简介:
Details of clinical, biochemical and molecular analysis and of outcomes and prenatal diagnoses in each patient in the study. The data provides complete information about each patient enrolled in the study. This includes the demographic details, clinical and family history, the laboratory investigations (biochemical as well as mutation analysis), an outcome data and information about prenatal diagnosis in the particular family. Each patient is assigned a number, and all patients belong to different families, thus 123 patients from 123 families were enrolled. Data is pooled from two genetic centres differentiated by use of different color font in the table – black for centre 1 and maroon for centre 2. (XLSX 30 kb)
创建时间:
2018-10-02
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