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)

本研究中每例患者的临床、生化与分子分析详情，以及转归与产前诊断情况。本数据集涵盖研究纳入的全部受试者的完整信息，具体包括人口统计学资料、临床与家族病史、实验室检查（生化检测及突变分析）、转归数据，以及对应家系的产前诊断相关信息。每例患者均分配有唯一编号，且所有患者均来自不同家系，本研究共纳入123个家系的123例受试者。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：中心1的数据为黑色字体，中心2的数据为栗色字体。（XLSX 30 kb）