TY - JOUR
TI - 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]
AU - Papadimitriou, D.T.
AU - Manolakos, E.
AU - Dermitzaki, E.
AU - Filiousi, F.
AU - Papoulidis, I.
AU - Zoupanos, G.
AU - Provenzano, A.
AU - Mastorakos, G.
JO - WORLD JOURNAL OF DIABETES
PY - 2021
VL - 13
TODO - 8
SP - 688-692
PB - John Wiley and Sons Inc
SN - null
TODO - 10.1111/1753-0407.13183
TODO - 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
TODO - null
ER -