Publications by authors named "Antje Knapke"
Front Pediatr
February 2022
Article Synopsis
- A clinical case illustrates how the antenatal diagnosis of cystinuria uncovered a more complex condition involving renal Fanconi syndrome, hypoglycemia, and liver issues.
- Genetic testing revealed a specific variant linked to the disease, suggesting that ultrasound markers may indicate more severe underlying problems, prompting a reevaluation of genetic counseling for expecting families.
