No abstract available
MeSH terms
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Aldehyde Oxidoreductases / deficiency*
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Cerebellar Nuclei / pathology
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Child
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Consanguinity
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Globus Pallidus / pathology
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Humans
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Hydroxybutyrates / urine
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Intellectual Disability / diagnosis
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Intellectual Disability / genetics*
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Magnetic Resonance Imaging
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Male
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Muscle Hypotonia / diagnosis
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Muscle Hypotonia / genetics*
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Succinate-Semialdehyde Dehydrogenase
Substances
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Hydroxybutyrates
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4-hydroxybutyric acid
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Aldehyde Oxidoreductases
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ALDH5A1 protein, human
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Succinate-Semialdehyde Dehydrogenase