Late diagnosis of a rare multisystemic genetic disorder: Transaldolase deficiency due to homozygous <i>TALDO1</i> c.345dupA variant


Dirim A. B., Kalayci T., Safak S., Garayeva Guller N., Oto Ö. A., Artan A. S., ...More

NEPHROLOGY, vol.29, no.1, pp.55-56, 2024 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Letter
  • Volume: 29 Issue: 1
  • Publication Date: 2024
  • Doi Number: 10.1111/nep.14243
  • Journal Name: NEPHROLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, MEDLINE
  • Page Numbers: pp.55-56
  • Istanbul University Affiliated: Yes