DiBacco ML - Search Results

1

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

2

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.

3

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.

4

Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency.

DiBacco ML, Pop A, Salomons GS, Hanson E, Roullet JB, Gibson KM, Pearl PL. DiBacco ML, et al. Neurology. 2020 Nov 10;95(19):e2675-e2682. doi: 10.1212/WNL.0000000000010730. Epub 2020 Sep 4. Neurology. 2020. PMID: 32887777 Free PMC article.

5

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. 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.

6

Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study.

Pearl PL, DiBacco ML, Papadelis C, Opladen T, Hanson E, Roullet JB, Gibson KM. Pearl PL, et al. Among authors: dibacco ml. J Child Neurol. 2021 Nov;36(13-14):1153-1161. doi: 10.1177/0883073820981262. Epub 2021 Jan 4. J Child Neurol. 2021. PMID: 33393837 Free PMC article.

7

Magnetic Resonance Imaging (MRI) and Spectroscopy in Succinic Semialdehyde Dehydrogenase Deficiency.

Afacan O, Yang E, Lin AP, Coello E, DiBacco ML, Pearl PL, Warfield SK, Consortium SDI. Afacan O, et al. Among authors: dibacco ml. J Child Neurol. 2021 Nov;36(13-14):1162-1168. doi: 10.1177/0883073821991295. Epub 2021 Feb 9. J Child Neurol. 2021. PMID: 33557675 Free PMC article.

8

Speech Motor Function and Auditory Perception in Succinic Semialdehyde Dehydrogenase Deficiency: Toward Pre-Supplementary Motor Area (SMA) and SMA-Proper Dysfunctions.

Ahmadi ZZ, DiBacco ML, Pearl PL. Ahmadi ZZ, et al. Among authors: dibacco ml. J Child Neurol. 2021 Nov;36(13-14):1210-1217. doi: 10.1177/08830738211001210. Epub 2021 Mar 23. J Child Neurol. 2021. PMID: 33757330

9

Transcranial Magnetic Stimulation in Succinic Semialdehyde Dehydrogenase Deficiency: A Measure of Maturational Trajectory of Cortical Excitability.

Tsuboyama M, Liu J, Kaye H, DiBacco M, Pearl PL, Rotenberg A. Tsuboyama M, et al. J Child Neurol. 2021 Nov;36(13-14):1169-1176. doi: 10.1177/08830738211008735. Epub 2021 May 31. J Child Neurol. 2021. PMID: 34058900 Free PMC article.

10

Sporadic and Periodic Interictal Discharges in Critically Ill Children: Seizure Associations and Time to Seizure Identification.

Sansevere AJ, DiBacco ML, Zhang B, Akhondi-Asl A, Libenson MH, Tasker RC, Pearl PL. Sansevere AJ, et al. Among authors: dibacco ml. J Clin Neurophysiol. 2023 Feb 1;40(2):130-135. doi: 10.1097/WNP.0000000000000860. Epub 2021 Jun 17. J Clin Neurophysiol. 2023. PMID: 34144575

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