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Postnatal gene restoration in succinic semialdehyde dehydrogenase deficiency (SSADHD) reveals phenotype reversibility.

Lee HHC, McGinty G, Liebhardt A, Zhang Z, Welzel B, Vermudez SAD, Arning E, Lin R, Nguyen M, Cakici D, Yu T, Woolf CJ, Pearl PL, Gao G, Sahin M, Rotenberg A. BioRxiv 2026 March 26.

Preprint · Not yet peer reviewed

Read preprint → DOI: 10.64898/2026.03.24.713250

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.

Read article → DOI: 10.1002/acn3.70148

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.

Read article → DOI: 10.1002/jimd.12735

Consensus guidelines for the diagnosis and management 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.

Read article → DOI: 10.1016/j.ymgme.2024.108363

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.

Read article → DOI: 10.1186/s11689-024-09538-9

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.

Read article → DOI: 10.1212/WNL.0000000000207133

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.

Read article → DOI: 10.3390/ijms23052606

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.

Read article → DOI: 10.1177/0883073821993000