Total: 1 |
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PMID (PMCID) | ||
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23612387 |
MALE | Infant |
Report of a novel Indian case of congenital erythropoietic porphyria and overview of therapeutic options. | ||
Pandey M, Mukherjee SB, Patra B, Kapoor S, Ged C, Aneja S, Seth A. J Pediatr Hematol Oncol. 2013;35(4):e167-70. |
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Anemia, erythrodontia, hepatosplenomegaly, and massive urinary elimination of predominantly type I porphyrins was suggestive of congenital erythropoietic porphyria. |