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

Journal of child neurology, 2021-11, Vol.36 (13-14), p.1210-1217

2021

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The presence and severity of epilepsy coincide with reduced γ‐aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency

Epilepsia (Copenhagen), 2023-06, Vol.64 (6), p.1516-1526

2023

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

Journal of clinical neurophysiology, 2023-02, Vol.40 (2), p.130

2023

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Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder

Journal of neurodevelopmental disorders, 2024-04, Vol.16 (1), p.21-15, Article 21

2024

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Continuous Video Electroencephalography (EEG) for Event Characterization in Critically Ill Children

Journal of child neurology, 2022-06, Vol.37 (7), p.562-567

2022

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Quantitative Electroencephalography for Early Detection of Elevated Intracranial Pressure in Critically Ill Children: Case Series and Proposed Protocol

Journal of child neurology, 2022-01, Vol.37 (1), p.5-11

2022

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Background EEG Suppression Ratio for Early Detection of Cerebral Injury in Pediatric Cardiac Arrest

Neurocritical care, 2024-02

2024

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Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study

Journal of child neurology, 2021-11, Vol.36 (13-14), p.1153-1161

2021

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

Journal of child neurology, 2021-11, Vol.36 (13-14), p.1162-1168

2021

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Proceedings of the International SSADH Deficiency 2020 Conference

Journal of child neurology, 2021-11, Vol.36 (13-14), p.1151-1152

2021

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Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants

Human genetics, 2023-12, Vol.142 (12), p.1755-1776

2023

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Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency

Molecular genetics and metabolism, 2024-05, Vol.142 (1), p.108363, Article 108363

2024

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Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism

Journal of child neurology, 2021-11, Vol.36 (13-14), p.1223-1230

2021

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GABA Transaminase Deficiency With Survival Into Adulthood

Journal of child neurology, 2019-03, Vol.34 (4), p.216-220

2019

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Reduced evoked cortical beta and gamma activity and neuronal synchronization in succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolism

Brain communications, 2023, Vol.5 (6), p.fcad291-fcad291

2023

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Age‐related phenotype and biomarker changes in SSADH deficiency

Annals of clinical and translational neurology, 2019-01, Vol.6 (1), p.114-120

2019

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T64. Continuous EEG monitoring in extracorporeal membrane oxygenation in the pediatric and neonatal intensive care unit

Clinical neurophysiology, 2018-05, Vol.129, p.e26-e26

2018

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Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency

Developmental medicine and child neurology, 2023-12, Vol.65 (12), p.1596-1606

2023

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SSADH Deficiency: Review of the Natural History Study

Journal of child neurology, 2021-01, p.883073820981262-883073820981262

2021

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Burden of illness in aromatic l‐amino acid decarboxylase deficiency

Annals of the Child Neurology Society, 2023-03, Vol.1 (1), p.75-81

2023

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

Journal of child neurology, 2021-11, Vol.36 (13-14), p.1169-1176

2021

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Delays in latencies of median-nerve evoked magnetic fields in patients with succinic semialdehyde dehydrogenase deficiency

Clinical neurophysiology, 2024-05, Vol.161, p.52-58

2024

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Transcranial magnetic stimulation in SSADH deficiency: a measure of maturational trajectory of cortical excitability

Journal of child neurology, 2021-05, p.8830738211008735-8830738211008735

2021

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Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency

Orphanet journal of rare diseases, 2020-09, Vol.15 (1), p.261-261, Article 261

2020

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

The presence and severity of epilepsy coincide with reduced γ‐aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency

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

Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder

Continuous Video Electroencephalography (EEG) for Event Characterization in Critically Ill Children

Quantitative Electroencephalography for Early Detection of Elevated Intracranial Pressure in Critically Ill Children: Case Series and Proposed Protocol

Background EEG Suppression Ratio for Early Detection of Cerebral Injury in Pediatric Cardiac Arrest

Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study

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

Proceedings of the International SSADH Deficiency 2020 Conference

Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants

Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency

Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism

GABA Transaminase Deficiency With Survival Into Adulthood

Reduced evoked cortical beta and gamma activity and neuronal synchronization in succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolism

Age‐related phenotype and biomarker changes in SSADH deficiency

T64. Continuous EEG monitoring in extracorporeal membrane oxygenation in the pediatric and neonatal intensive care unit

Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency

SSADH Deficiency: Review of the Natural History Study

Burden of illness in aromatic l‐amino acid decarboxylase deficiency

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

Delays in latencies of median-nerve evoked magnetic fields in patients with succinic semialdehyde dehydrogenase deficiency

Transcranial magnetic stimulation in SSADH deficiency: a measure of maturational trajectory of cortical excitability

Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency

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