Total: 1 |
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PMID (PMCID) | ||
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25639153 |
MALE | Middle Aged |
Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation. | ||
Laemmle A, Hahn D, Hu L, Rufenacht V, Gautschi M, Leibundgut K, Nuoffer JM, Haberle J. Mol Genet Metab. 2015;114(3):438-44. |
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We observed severe hyperammonemia (maximum 475 956mol/L) in a 2-year-old male patient, who underwent high-dose chemotherapy with carboplatin, etoposide and melphalan, and autologous hematopoietic stem cell transplantation for a neuroblastoma stage IV. |