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Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
Wassenberg T, Molero-Luis M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M, Opladen T. Wassenberg T, et al. Among authors: pearl pl. Orphanet J Rare Dis. 2017 Jan 18;12(1):12. doi: 10.1186/s13023-016-0522-z. Orphanet J Rare Dis. 2017. PMID: 28100251 Free PMC article. Review.
Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency.
Kirby T, Walters DC, Shi X, Turgeon C, Rinaldo P, Arning E, Ashcraft P, Bottiglieri T, DiBacco M, Pearl PL, Roullet JB, Gibson KM. Kirby T, et al. Among authors: pearl pl. Orphanet J Rare Dis. 2020 Sep 23;15(1):261. doi: 10.1186/s13023-020-01522-5. Orphanet J Rare Dis. 2020. PMID: 32967698 Free PMC article.
Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease.
Hwu PW, Kiening K, Anselm I, Compton DR, Nakajima T, Opladen T, Pearl PL, Roubertie A, Roujeau T, Muramatsu SI. Hwu PW, et al. Among authors: pearl pl. EMBO Mol Med. 2021 Sep 7;13(9):e14712. doi: 10.15252/emmm.202114712. Epub 2021 Aug 23. EMBO Mol Med. 2021. PMID: 34423905 Free PMC article.
The presence and severity of epilepsy coincide with reduced γ-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency.
Tokatly Latzer I, Bertoldi M, DiBacco ML, Arning E, Tsuboyama M, MacMullin P, Sachee D, Rotenberg A, Lee HHC, Aygun D, Opladen T, Jeltsch K, García-Cazorla À, Roullet JB, Gibson KM, Pearl PL. Tokatly Latzer I, et al. Among authors: pearl pl. Epilepsia. 2023 Jun;64(6):1516-1526. doi: 10.1111/epi.17592. Epub 2023 Apr 4. Epilepsia. 2023. PMID: 36961285 Free PMC article.
Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency.
Tokatly Latzer I, Hanson E, Bertoldi M, García-Cazorla À, Tsuboyama M, MacMullin P, Rotenberg A, Roullet JB, Pearl PL; SSADH Deficiency Investigators Consortium. Tokatly Latzer I, et al. Among authors: pearl pl. Dev Med Child Neurol. 2023 Dec;65(12):1596-1606. doi: 10.1111/dmcn.15659. Epub 2023 May 28. Dev Med Child Neurol. 2023. PMID: 37246331 Free article.
Reduced evoked cortical beta and gamma activity and neuronal synchronization in succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolism.
Papadelis C, Ntolkeras G, Tokatly Latzer I, DiBacco ML, Afacan O, Warfield S, Shi X, Roullet JB, Gibson KM; SSADH Deficiency Investigators Consortium; Pearl PL. Papadelis C, et al. Among authors: pearl pl. Brain Commun. 2023 Oct 25;5(6):fcad291. doi: 10.1093/braincomms/fcad291. eCollection 2023. Brain Commun. 2023. PMID: 37953848 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: pearl pl. 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.
265 results