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1-5 of 5 results for AADC deficiency

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Open accessCase reportFirst published 2023

Diagnosis of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency via Epilepsy Gene Panel Screening in a Patient with Atypical Presentation

Emily Gantz, J. Daniel Sharer, Tony M. McGrath

Child Neurology Open

Open accessCase reportFirst published 2014

Aromatic Amino Acid Decarboxylase Deficiency Not Responding to Pyridoxine and Bromocriptine Therapy: Case Report and Review of Response to Treatment

Majid Alfadhel, Rana Kattan

Journal of Central Nervous System Disease

Free accessResearch articleFirst published March, 2023

AAV2-hAADC (Eladocagene Exuparvovec) Biodistribution and Expression: Superiority of Intraputaminal versus Intracerebroventricular and Intrathecal (Lumbar) Routes of Administration

David R Compton, Steven J DeMarco, Padmaja Yalamanchili

International Journal of Toxicology

Restricted accessResearch articleFirst published March, 2014

Treatment of Congenital Neurotransmitter Deficiencies by Intracerebral Ventricular Injection of an Adeno-Associated Virus Serotype 9 Vector

Ni-Chung Lee, Yin-Hsiu Chien, Min-Hsiu Hu [...]

Human Gene Therapy

Open accessResearch articleFirst published January, 2025

REVEAL-CP: Selective Screening of Pediatric Patients for Aromatic L -Amino Acid Decarboxylase Deficiency with a Guthrie Card and In Silico Structural Modeling of One Index Case

Eugen-Matthias Strehle, Roberta Battini, Vasantha Gowda [...]

Genetic Testing and Molecular Biomarkers

Search results

Articles (5)

Journals (0)

1-5 of 5 results for AADC deficiency

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Sort by:

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Open accessCase reportFirst published 2023

Diagnosis of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency via Epilepsy Gene Panel Screening in a Patient with Atypical Presentation

Emily Gantz, J. Daniel Sharer, Tony M. McGrath

Child Neurology Open

Open accessCase reportFirst published 2014

Aromatic Amino Acid Decarboxylase Deficiency Not Responding to Pyridoxine and Bromocriptine Therapy: Case Report and Review of Response to Treatment

Majid Alfadhel, Rana Kattan

Journal of Central Nervous System Disease

Free accessResearch articleFirst published March, 2023

AAV2-hAADC (Eladocagene Exuparvovec) Biodistribution and Expression: Superiority of Intraputaminal versus Intracerebroventricular and Intrathecal (Lumbar) Routes of Administration

David R Compton, Steven J DeMarco, Padmaja Yalamanchili

International Journal of Toxicology

Restricted accessResearch articleFirst published March, 2014

Treatment of Congenital Neurotransmitter Deficiencies by Intracerebral Ventricular Injection of an Adeno-Associated Virus Serotype 9 Vector

Ni-Chung Lee, Yin-Hsiu Chien, Min-Hsiu Hu [...]

Human Gene Therapy

Open accessResearch articleFirst published January, 2025

REVEAL-CP: Selective Screening of Pediatric Patients for Aromatic L -Amino Acid Decarboxylase Deficiency with a Guthrie Card and In Silico Structural Modeling of One Index Case

Eugen-Matthias Strehle, Roberta Battini, Vasantha Gowda [...]

Genetic Testing and Molecular Biomarkers