@article{3119479, title = "A novel heterozygous mutation in the SLC5A2 gene causing severe glycosuria, mild failure to thrive, and subclinical hypoglycemia [一种新的SLC5A2基因杂合突变导致严重的糖尿、轻度的生长障碍和亚临床低血糖]", author = "Papadimitriou, D.T. and Manolakos, E. and Dermitzaki, E. and Filiousi, F. and Papoulidis, I. and Zoupanos, G. and Provenzano, A. and Mastorakos, G.", journal = "WORLD JOURNAL OF DIABETES", year = "2021", volume = "13", number = "8", pages = "688-692", publisher = "John Wiley and Sons Inc", doi = "10.1111/1753-0407.13183", keywords = "genomic DNA; glucose; hemoglobin A1c; sodium glucose cotransporter 2; glycosylated hemoglobin; hemoglobin A1c protein, human; SLC5A2 protein, human; sodium glucose cotransporter 2, Article; bioinformatics; body height; body mass; body weight; case report; child; clinical article; disease severity; exon; female; gene; gene identification; gene mutation; gene targeting; genetic screening; genetic variability; glucose blood level; glucosuria; glycogen storage disease; hemoglobin blood level; heterozygosity; high throughput sequencing; hospital admission; human; hypoglycemia; incidental finding; medical examination; patient referral; preschool child; Sanger sequencing; scoring system; SLC5A2 gene; Western blotting; whole exome sequencing; failure to thrive; genetics; glucosuria; heterozygote; hypoglycemia, Child, Preschool; Failure to Thrive; Female; Glycated Hemoglobin A; Glycosuria; Heterozygote; Humans; Hypoglycemia; Sodium-Glucose Transporter 2" }