1.
Clin Case Rep
; 7(1): 51-53, 2019 Jan.
Artículo
en Inglés
| MEDLINE
| ID: mdl-30656007
RESUMEN
A three-day-old newborn girl presented with decreased feeding and dehydration. She was sick and in shock. She had renal impairment and hypernatremia. With the resumption of breast feeding, she developed watery stools and hypernatremia. Glucose-Galactose Malabsorption was suspected and confirmed by the presence of a likely pathogenic homozygous variant in SLC5A1.