Phillip Lawrence Pearl, M.D.
This page shows the publications co-authored by Phillip Pearl and Melissa DiBacco.
Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency. Neurology. 2020 11 10; 95(19):e2675-e2682.
Age-related phenotype and biomarker changes in SSADH deficiency. Ann Clin Transl Neurol. 2019 01; 6(1):114-120.
Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism. J Child Neurol. 2021 Aug 31; 8830738211028388.
Sporadic and Periodic Interictal Discharges in Critically Ill Children: Seizure Associations and Time to Seizure Identification. J Clin Neurophysiol. 2021 May 05.
Speech Motor Function and Auditory Perception in Succinic Semialdehyde Dehydrogenase Deficiency: Toward Pre-Supplementary Motor Area (SMA) and SMA-Proper Dysfunctions. J Child Neurol. 2021 Mar 23; 8830738211001210.
Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study. J Child Neurol. 2021 Jan 04; 883073820981262.
GABA Transaminase Deficiency With Survival Into Adulthood. J Child Neurol. 2019 03; 34(4):216-220.
Transcranial Magnetic Stimulation in Succinic Semialdehyde Dehydrogenase Deficiency: A Measure of Maturational Trajectory of Cortical Excitability. J Child Neurol. 2021 May 31; 8830738211008735.
Magnetic Resonance Imaging (MRI) and Spectroscopy in Succinic Semialdehyde Dehydrogenase Deficiency. J Child Neurol. 2021 Feb 09; 883073821991295.
Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency. Orphanet J Rare Dis. 2020 09 23; 15(1):261.
EEG features of brain injury during extracorporeal membrane oxygenation in children. Neurology. 2020 09 08; 95(10):e1372-e1380.
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