[The enzyme defect in recessive congenital methemoglobinemia with encephalopathy. A new defective variant of NADH-diaphorase (Beni-Messous variant)].
D000906:Antibodies; D001205:Ascorbic Acid / Q000627:therapeutic use; D001264:Athetosis / Q000209:etiology*; D002469:Cell Separation; D003241:Consanguinity; D003579:Cytochrome Reductases / Q000097:blood; D008058:Dihydrolipoamide Dehydrogenase / Q000097:blood*; D004592:Electrophoresis, Starch Gel; D004905:Erythrocyte Aging; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006452:Hemoglobinometry; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology*; D007962:Leukocytes / Q000201:enzymology; D008661:Metabolism, Inborn Errors; D008708:Methemoglobinemia / Q000150:complications / Q000201:enzymology* / Q000235:genetics; D010375:Pedigree; D013053:Spectrophotometry
D000906:Antibodies; D003579:Cytochrome Reductases; D008058:Dihydrolipoamide Dehydrogenase; D001205:Ascorbic Acid
La lésion enzymatique dans la méthémoglobinémie congénitale récessive avec encéphalopathie. Description d'une nouvelle variante déficitaire de NADH-diaphorase (variante Beni-Messous)