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DeCS
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Descriptor English:
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Pyruvate Metabolism, Inborn Errors
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Descriptor Spanish:
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Errores Innatos del Metabolismo del Piruvato
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Descriptor Portuguese:
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Erros Inatos do Metabolismo dos Piruvatos
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Tree Number:
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C16.320.565.202.810
C18.452.648.202.810
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Definition English:
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Hereditary disorders of pyruvate metabolism. They are difficult to diagnose and describe because pyruvate is a key intermediate in glycolysis, gluconeogenesis, and the tricarboxylic acid cycle. Some inherited metabolic disorders may alter pyruvate metabolism indirectly. Disorders in pyruvate metabolism appear to lead to deficiencies in neurotransmitter synthesis and, consequently, to nervous system disorders. |
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History Note English:
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89
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Allowable Qualifiers English:
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Record Number:
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23809
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Unique Identifier:
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D015323
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Occurrence in VHL:
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Similar:
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DeCS
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