The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.

Julia-Palacios N. A., Kuseyri Hübschmann O., Olivella M., Pons R., Horvath G., Lücke T., ...More

Journal of inherited metabolic disease, vol.47, no.3, pp.447-462, 2024 (SCI-Expanded, Scopus)

  • Publication Type: Article / Article
  • Volume: 47 Issue: 3
  • Publication Date: 2024
  • Doi Number: 10.1002/jimd.12723
  • Journal Name: Journal of inherited metabolic disease
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, PASCAL, BIOSIS, CAB Abstracts, Veterinary Science Database
  • Page Numbers: pp.447-462
  • Keywords: evolving phenotype, genetic spectrum, in silico analyses, long-term follow-up, SSADH deficiency
  • Hacettepe University Affiliated: Yes