Τίτλος:
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]
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Δεν υπάρχει περίληψη
Συγγραφείς:
Papadimitriou, D.T.
Manolakos, E.
Dermitzaki, E.
Filiousi, F.
Papoulidis, I.
Zoupanos, G.
Provenzano, A.
Mastorakos, G.
Περιοδικό:
WORLD JOURNAL OF DIABETES
Εκδότης:
John Wiley and Sons Inc
Λέξεις-κλειδιά:
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
DOI:
10.1111/1753-0407.13183
