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Natural History Study of Patients with Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency

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  • المؤلفون: Washington State University; University of South Florida; University Hospital Heidelberg; Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
  • المصدر:
    Natural History Study of Patients with Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency
    Tokatly Latzer I, Lee HHC, Yang E, Alves C, Bertoldi M, Fung C, Steele SV, Kule E, Jin Z, Rotenberg A, Roullet JB, Pearl PL. Central Dysmyelination in SSADH-Deficient Humans and Mice. Ann Clin Transl Neurol. 2025 Jul 31. doi: 10.1002/acn3.70148. Online ahead of print.
    Tokatly Latzer I, Roullet JB, Afshar-Saber W, Lee HHC, Bertoldi M, McGinty GE, DiBacco ML, Arning E, Tsuboyama M, Rotenberg A, Opladen T, Jeltsch K, Garcia-Cazorla A, Julia-Palacios N, Gibson KM, Sahin M, Pearl PL. Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder. J Neurodev Disord. 2024 Apr 24;16(1):21. doi: 10.1186/s11689-024-09538-9.
  • معلومة اضافية
    • Contributors:
      Phillip Pearl, Director of Epilepsy and Clinical Neurophysiology, William G. Lennox Chair, Boston Children's Hospital