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Page 1
Proceedings of the International SSADH Deficiency 2020 Conference.
Pearl PL, DiBacco ML, Roullet JB, Gibson KM. Pearl PL, et al. Among authors: dibacco ml. J Child Neurol. 2021 Nov;36(13-14):1151-1152. doi: 10.1177/08830738211061930. Epub 2021 Nov 20. J Child Neurol. 2021. PMID: 34806467 No abstract available.
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.
Tokatly Latzer I, Bertoldi M, Blau N, DiBacco ML, Elsea SH, García-Cazorla À, Gibson KM, Gropman AL, Hanson E, Hoffman C, Jeltsch K, Juliá-Palacios N, Knerr I, Lee HHC, Malaspina P, McConnell A, Opladen T, Oppebøen M, Rotenberg A, Walterfang M, Wang-Tso L, Wevers RA, Roullet JB, Pearl PL. Tokatly Latzer I, et al. Among authors: dibacco ml. Mol Genet Metab. 2024 May;142(1):108363. doi: 10.1016/j.ymgme.2024.108363. Epub 2024 Mar 4. Mol Genet Metab. 2024. PMID: 38452608 Free PMC article.
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder.
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, García-Cazorla À, Juliá-Palacios N, Gibson KM, Sahin M, Pearl PL. Tokatly Latzer I, et al. Among authors: dibacco ml. J Neurodev Disord. 2024 Apr 24;16(1):21. doi: 10.1186/s11689-024-09538-9. J Neurodev Disord. 2024. PMID: 38658850 Free PMC article.
The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism.
Tokatly Latzer I, Hanson E, Bertoldi M, DiBacco ML, Aygun D, Afacan O, García-Cazorla À, Juliá-Palacios N, Opladen T, Hübschmann OK, Jeltsch K, Aden P, Oppebøen M, Rotenberg A, Tsuboyama M, Roullet JB, Pearl PL. Tokatly Latzer I, et al. Among authors: dibacco ml. Mol Genet Metab. 2025 Mar;144(3):109051. doi: 10.1016/j.ymgme.2025.109051. Epub 2025 Feb 4. Mol Genet Metab. 2025. PMID: 39919676
Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants.
Latzer IT, Roullet JB, Cesaro S, DiBacco ML, Arning E, Rotenberg A, Lee HHC, Opladen T, Jeltsch K, García-Cazorla À, Juliá-Palacios N, Gibson KM, Bertoldi M, Pearl PL. Latzer IT, et al. Among authors: dibacco ml. Res Sq [Preprint]. 2023 Jul 10:rs.3.rs-3111263. doi: 10.21203/rs.3.rs-3111263/v1. Res Sq. 2023. Update in: Hum Genet. 2023 Dec;142(12):1755-1776. doi: 10.1007/s00439-023-02613-6. PMID: 37503297 Free PMC article. Updated. Preprint.
Age-related phenotype and biomarker changes in SSADH deficiency.
DiBacco ML, Roullet JB, Kapur K, Brown MN, Walters DC, Gibson KM, Pearl PL. DiBacco ML, et al. Ann Clin Transl Neurol. 2018 Dec 3;6(1):114-120. doi: 10.1002/acn3.696. eCollection 2019 Jan. Ann Clin Transl Neurol. 2018. PMID: 30656189 Free PMC article.
GABA Transaminase Deficiency With Survival Into Adulthood.
Hegde AU, Karnavat PK, Vyas R, DiBacco ML, Grant PE, Pearl PL. Hegde AU, et al. Among authors: dibacco ml. J Child Neurol. 2019 Mar;34(4):216-220. doi: 10.1177/0883073818823359. Epub 2019 Jan 15. J Child Neurol. 2019. PMID: 30644311 Free PMC article.
22 results