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DeCS
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Descriptor English:
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Fructose Metabolism, Inborn Errors
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Descriptor Spanish:
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Errores Innatos del Metabolismo de la Fructosa
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Descriptor Portuguese:
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Erros Inatos do Metabolismo da Frutose
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Tree Number:
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C16.320.565.202.251
C18.452.648.202.251
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Definition English:
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Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. Essential fructosuria is a benign asymptomatic metabolic disorder caused by deficiency in fructokinase, leading to decreased conversion of fructose to fructose-1-phosphate and alimentary hyperfructosemia, but with no clinical dysfunction; may produce a false-positive diabetes test. |
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Indexing Annotation English:
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an inborn error of carbohydrate metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; DF: FRUCTOSE METAB INBORN ERR
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History Note English:
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89; FRUCTOSE INTOLERANCE was see under CARBOHYDRATE METABOLISM, INBORN ERRORS 1967-88 (Prov 1964-66)
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Allowable Qualifiers English:
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Record Number:
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23637
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Unique Identifier:
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D015318
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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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