Phillip Pearl
Affiliations: | 2014- | Neurology | Harvard Medical School - Boston Children's Hospital |
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"Phillip Pearl"Mean distance: 15.41 (cluster 6)
Parents
Sign in to add mentor| Marvin A. Fishman | grad student | Baylor College of Medicine | |
| Gregory L. Holmes | grad student |
Children
Sign in to add trainee| Mahsa Parviz | research assistant | 2014- | Harvard Medical School - Boston Children's Hospital |
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Publications
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| Tokatly Latzer I, Bertoldi M, Blau N, et al. (2024) Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency. Molecular Genetics and Metabolism. 142: 108363 |
| Latzer IT, Pearl PL. (2024) Treatable inherited metabolic epilepsies. Epilepsy & Behavior : E&B. 151: 109621 |
| Pearl PL. (2023) Comment: Amenable Treatable Severe Pediatric Epilepsies. Seminars in Pediatric Neurology. 47: 101073 |
| Latzer IT, Blau N, Ferreira CR, et al. (2023) Clinical and biochemical footprints of inherited metabolic diseases. XV. Epilepsies. Molecular Genetics and Metabolism. 140: 107690 |
| Tokatly Latzer I, Bertoldi M, DiBacco ML, et al. (2023) The Presence and Severity of Epilepsy Coincide with Reduced GABA and Cortical Excitatory Markers in SSADH Deficiency. Epilepsia |
| Lee HHC, McGinty GE, Pearl PL, et al. (2022) Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted Medicine. International Journal of Molecular Sciences. 23 |
| Lee HHC, Pearl PL, Rotenberg A. (2021) Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in γ-Aminobutyric Acid Plasticity. Journal of Child Neurology. 883073821993000 |
| Coughlin CR, Tseng LA, Abdenur JE, et al. (2020) Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency. Journal of Inherited Metabolic Disease |
| Bernstock JD, Olsen HE, Segar D, et al. (2020) Corpus callosotomy for refractory epilepsy in Aicardi syndrome: a case report and focused review of the literature. World Neurosurgery |
| Brown M, Ashcraft P, Arning E, et al. (2019) Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female. Molecular Genetics & Genomic Medicine. e629 |