Resources

2025

Central dysmyelination in SSADH-deficient humans and mice. Tokatly Latzer I, Lee HHC, Yang E, Alves C, Bertoldi M, Fung C, Steele SV, Kule E, Jin Z, Rotenberg A, Roullet J-B, Pearl PL. Ann Clin Transl Neurol. 2025 Jul 31. doi: 10.1002/acn3.70148

2024

Gene Replacement Therapies for Inherited Disorders of Neurotransmission: Current Progress in Succinic Semialdehyde Dehydrogenase Deficiency. Lee HHC, Tokatly Latzer I, Bertoldi M, Gao G, Pearl PL, Sahin M, Rotenberg A. JIMD. 2024 Apr 6. doi: 10.1002/jimd.12735

Consensus guidelines for the diagnosis and managemenet of succinic semialdehyde dehydrogenase deficiency. Tokatly Latzer I, Bertoldi M, Blau N, DiBacco ML, Elsea SH, Garcia-Cazola A, Gibson KM, Gropman AL, Hanson E, Hoffman C, Jeltsch K, Julia-Palacios N, Knerr I, Lee HHC, Malaspina P, McConnell A, Opladen T, Oppeboen M, Rotenberg A., Walterfang M, Wang-Tso L, Wevers RA, Roullet JB, Pearl PL. Mol Genet Metab. 2024 May. doi: 10.1016/j.ymgme.2024

Clinical and molecular outcomes from the 5-year natural history study of SSADH deficiency, a model metabolic neurodevelopmental disorder. Tokatly Latzer I, Roullet JB, Ashar-Saber W, Lee HHC, Bertoldi M, McGinty GE, DiBacco ML, Arning E, Tsuboyama M, Rotenberg A, Opladen T, Jeltsch K, Garcia-Cazola A, Julia-Palacios N, Gibson KM, Sahin M, Pearl PL. J Neurodev Disord. 2024 Apr 24. doi: 10.1186/s11689-024-09538-9

2023

New Therapeutic Approaches to Inherited Metabolic Pediatric Epilepsies. Pearl PL, Tokatly Latzer I, Lee HHC, Rotenberg A. Neurology. 2023 Jul 18’101(3):124-133. doi: 10.1212/WNL.0000000000207133. Epub 2023 Mar 6.

2022

Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted Medicine. Lee HHC, McGinty GE, Pearl PL, Rotenberg A. Int J Mol Sci. 2022 Feb 26;23(5)”2606. doi: 10.3390/ijms23052606.

2021

Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in γ-Aminobutyric Acid Plasticity. Lee HHC, Pearl PL, Rotenberg A. J Child Neurol. 2021 Nov; 36(13-14):1200-1209. doi: 10.1177/0883073821993000.