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DeCS
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Descritor Inglês:
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Multiple Acyl Coenzyme A Dehydrogenase Deficiency
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Descritor Espanhol:
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deficiencia múltiple de acil coenzima A deshidrogenasa
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Descritor Português:
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Deficiência Múltipla de Acil Coenzima A Desidrogenase
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Sinônimos Inglês:
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Aciduria, Ethylmalonic-Adipic
Acidurias, Ethylmalonic-Adipic
ETFA Deficiencies
ETFA Deficiency
ETFB Deficiencies
ETFB Deficiency
ETFDH Deficiencies
ETFDH Deficiency
Electron Transfer Flavoprotein Alpha Subunit Deficiency
Electron Transfer Flavoprotein Beta Subunit Deficiency
Electron Transfer Flavoprotein Deficiency
Electron Transfer Flavoprotein Dehydrogenase Deficiency
Ethylmalonic Adipic Aciduria
Ethylmalonic Adipicaciduria
Ethylmalonic-Adipic Aciduria
Ethylmalonic-Adipic Acidurias
Ethylmalonic-Adipicaciduria
Glutaric Acidemia Type II
Glutaric Acidemia, Type 2
Glutaric Aciduria II
Glutaric Aciduria IIA
Glutaric Aciduria IIB
Glutaric Aciduria IIC
Glutaric Aciduria Type 2
Glutaric Aciduria Type II
Glutaric Aciduria, Type 2
MADD (Multiple Acyl CoA Dehydrogenase Deficiency)
MADD (Multiple Acyl-CoA Dehydrogenase Deficiency)
MADDs (Multiple Acyl-CoA Dehydrogenase Deficiency)
Multiple Acyl CoA Dehydrogenase Deficiency
Multiple Acyl-CoA Dehydrogenase Deficiency
Multiple FAD Dehydrogenase Deficiency
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Categoria:
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C16.320.565.100.614
C18.452.648.100.614
C18.452.660.612
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Definição Inglês:
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An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1). |
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Nota Histórica Inglês:
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2008
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Qualificadores Permitidos Inglês:
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Número do Registro:
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52627
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Identificador Único:
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D054069
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Ocorrência na BVS:
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Similar:
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DeCS
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