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Paroxysmal Nocturnal Hemoglobinuria: From Bench to Bed.
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Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hemolytic anemia with highly variable clinical symptoms making the diagnosis and prediction of its outcome difficult. It is caused by the expansion of a hematopoietic progenitor cell that has acquired a mutation in the X-linked
A Rare Case of Paroxysmal Nocturnal Hemoglobinuria With Bilateral Renal Vein Thrombosis
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Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hematopoietic stem cell (HSC) disorder characterized by a partial or complete deficiency of glycosyl-phosphatidylinositol (GPI)-linked membrane proteins, which leads to intravascular hemolysis. The loss of CD55 and CD59, two GPI-anchored
A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.
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Recent years have seen great advances in our knowledge of congenital disorders of glycosylation (CDG), a clinically and biochemically heterogeneous group of genetic diseases caused by defects in the synthesis (CDG-I) or processing (CDG-II) of glycans that form glycoconjugates. This paper reports a
Treatment of paroxysmal nocturnal hemoglobinuria in the era of eculizumab.
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Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, life-threatening and debilitating clonal blood disorder caused by an acquired mutation in the phosphatidylinositol glycan (PIG)-A gene. In pluripotent hematopoietic stem cells, this leads to a deficiency of glycosylphosphatidylinositol
[Rituximab therapy in the treatment of anti-neutrophil cytoplasmic antibody (ANCA) -positive interstitial pneumonia: case report].
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We report a patient treated with rituximab for interstitial pneumonia (IP) associated with microscopic polyangiitis (MPA) and who was undergoing hemodialysis. A 59-year-old woman who had been treated with tacrolimus for 1 year for rheumatic arthritis was referred to the Department of Nephrology for
Paroxysmal nocturnal hemoglobinuria and the complement system: recent insights and novel anticomplement strategies.
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Paroxysmal nocturnal hemoglobinuria (PNH) is a hematological disorder characterized by complement-mediated hemolytic anemia, thrombophilia, and bone marrow failure. PNH is due to a somatic, acquired mutation in the X-linked phosphatidylinositol glycan class A (PIG-A) gene, which impairs the membrane
Paroxysmal nocturnal hemoglobinuria from bench to bedside.
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Paroxysmal nocturnal hemoglobinuria (PNH) is a rare hematologic disease that presents with protean manifestations. Clinical and laboratory investigation over the past 25 years has uncovered most of the basic science underpinnings of PNH and has led to the development of a highly effective targeted
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