The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.

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

Journal of inherited metabolic disease, cilt.47, sa.3, ss.447-462, 2024 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 47 Sayı: 3
  • Basım Tarihi: 2024
  • Doi Numarası: 10.1002/jimd.12723
  • Dergi Adı: Journal of inherited metabolic disease
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, PASCAL, BIOSIS, CAB Abstracts, Veterinary Science Database
  • Sayfa Sayıları: ss.447-462
  • Anahtar Kelimeler: evolving phenotype, genetic spectrum, in silico analyses, long-term follow-up, SSADH deficiency
  • Hacettepe Üniversitesi Adresli: Evet