No abstract available
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Acetylation
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Adolescent
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Amidohydrolases / deficiency*
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Amidohydrolases / genetics
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Amino Acids / urine
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Brain / enzymology
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Brain / pathology
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Brain / physiopathology
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Brain Chemistry / genetics
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Brain Diseases, Metabolic, Inborn / enzymology*
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Brain Diseases, Metabolic, Inborn / genetics
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Brain Diseases, Metabolic, Inborn / physiopathology*
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Child, Preschool
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DNA Mutational Analysis
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Epilepsy / enzymology*
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Epilepsy / genetics
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Epilepsy / physiopathology
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Female
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Genetic Markers / genetics
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Genetic Predisposition to Disease / genetics*
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Humans
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Infant
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Magnetic Resonance Imaging
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Male
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Mutation, Missense / genetics*
Substances
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Amino Acids
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Genetic Markers
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Amidohydrolases
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aminoacylase I