Diagnostic Utility of Next-Generation Sequencing for Unconjugated Hyperbilirubinemia in Children. [PDF]
Kim HJ.
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Severe Pediatric Snakebite With Coagulopathy and Compartment Syndrome: Conservative Management With Plasma Exchange. [PDF]
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A novel heterozygous mutation in ANK1 solves a mystery of a patient with hyperbilirubinemia and splenomegaly. [PDF]
Shi Y, Ou Y, Wu H.
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Caught by Whole-Exome Sequencing: Hemoglobin Sun Prairie in a Patient With Unexplained Hemolytic Anemia From Nepal. [PDF]
Upadhaya P, Shrestha A.
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Hemoglobinuria-associated acute kidney injury in hemolytic uremic syndrome without renal thrombotic microangiopathy. [PDF]
Mancianti N +4 more
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Severe Chronic Kidney Disease Presenting as Asymptomatic Normocytic Anemia in a Child. [PDF]
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Red blood cell (RBC) destruction can be secondary to intrinsic disorders of the RBC or to extrinsic causes. In the congenital hemolytic anemias, intrinsic RBC enzyme, RBC membrane, and hemoglobin disorders result in hemolysis. The typical clinical presentation is a patient with pallor, anemia, jaundice, and often splenomegaly.
K. Haley
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Acquired and Congenital Hemolytic Anemia
Pediatrics In Review, 20161. Suzie A. Noronha, MD* 1. *Division of Pediatric Hematology/Oncology, University of Rochester, Golisano Children’s Hospital, Rochester, NY. 1. Pediatricians and other general practitioners may not be aware of the significance of central nervous system disease in children who have sickle cell disease, particularly the more subtle silent ...
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Anemia at the Extremes of Life: Congenital Hemolytic Anemia
Anemia in the Young and Old, 2018Congenital hemolytic anemia is an important etiology to consider in the differential diagnosis of pediatric anemia, especially in patients presenting with neonatal hyperbilirubinemia requiring phototherapy or exchange transfusion. It results from inherited or de novo genetic defects that affect the function, shape, or stability of the red blood cell ...
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Glucose phosphate isomerase (GPI) deficiency is the second most common red blood cell enzymopathy involving the glycolysis pathway. It is an autosomal recessive disorder. Chronic hemolytic anemia is a common manifestation. The most severe one can present
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