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DeCS
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Descriptor English:
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Brain Diseases, Metabolic, Inborn
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Descriptor Spanish:
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Encefalopatías Metabólicas Innatas
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Descriptor Portuguese:
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Encefalopatias Metabólicas Congênitas
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Synonyms English:
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Central Nervous System Inborn Metabolic Diseases
Familial Metabolic Brain Diseases
Inborn Errors of Metabolism, Brain
Metabolic Diseases, Inborn, Brain
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Tree Number:
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C10.228.140.163.100
C16.320.565.189
C18.452.132.100
C18.452.648.189
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Definition English:
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Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero. |
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Indexing Annotation English:
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General, prefer specifics; DF: BRAIN DIS METAB INBORN
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See Related English:
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Intellectual Disability
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History Note English:
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2000
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Allowable Qualifiers English:
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Record Number:
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34228
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Unique Identifier:
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D020739
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Occurrence in VHL:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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