Severe pancytopenia at the presentation of Imerslund-Gräsbeck syndrome in a 23-month-old Italian boy
Abstract Background Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by megaloblastic anemia due to selective cobalamin malabsorption and benign proteinuria. IGS is caused by a disfunction of the cubam receptor, which mediates the reabsorption of cobalamin in t...
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Main Authors: | Francesca Di Sario (Author), Francesca Piloni (Author), Francesco Gasparini (Author), Eleonora Serpetti (Author), Barbara Bruschi (Author), Paola Coccia (Author), Maria Elena Lionetti (Author), Simona Gatti (Author) |
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Format: | Book |
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BMC,
2024-09-01T00:00:00Z.
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