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- W281392208 abstract "Recessive hereditary methemoglobinemia type II is a rare disease due to generalized cytochrome b5 reductase (cytb5r) deficiency. It is characterized by severe encephalopathy with generalized dystonia and mild cyanosis. The blood methemoglobin level is elevated. The diagnosis is confirmed by detecting collapsed cytb5r activity in erythrocytes and leukocytes and by molecular analysis." @default.
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- W281392208 date "2010-01-01" @default.
- W281392208 modified "2023-10-17" @default.
- W281392208 title "Recessive Hereditary Methemoglobinemia Type II" @default.
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- W281392208 doi "https://doi.org/10.1016/b978-0-12-374105-9.00533-5" @default.
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