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

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)

本研究中每名患者的临床、生化与分子分析情况，以及转归与产前诊断结果详情。本数据集涵盖研究纳入的全部患者的完整信息，其中包括人口统计学资料、临床与家族病史、实验室检查（含生化检测与突变分析）、转归数据，以及对应家庭的产前诊断相关信息。每名患者均分配有唯一编号，且所有患者均来自不同家庭，本研究共纳入来自123个家庭的123名患者。数据集整合自两家遗传中心的数据，表格中通过不同字体颜色区分来源：中心1的数据使用黑色字体，中心2的数据使用栗色字体。（XLSX格式，文件大小30 KB）