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- W2197174323 abstract "Tyrosinemia type 1 (TT1) is an inherited metabolic disease that can be fatal when not detected early by newborn screening. In the past, children with TT1 had a poor prognosis due to organ failure and neurologic crisis during infancy. Recent improvements in newborn screening have changed the prognosis of affected children. Measurement of succinylacetone by tandem mass spectrometry provides early identification and the opportunity to manage TT1 as a chronic disease. Treatment includes genetic counseling, dietary management, pharmacotherapy, metabolic crisis prevention, and whole organ transplant. Nursing care is critical to successful management when it is based on a clear understanding of the pathophysiology. This overview of nursing care will provide specific recommendations to reduce complications and enhance the quality of life for children with TT1." @default.
- W2197174323 created "2016-06-24" @default.
- W2197174323 creator A5058344692 @default.
- W2197174323 date "2014-06-20" @default.
- W2197174323 modified "2023-09-23" @default.
- W2197174323 title "Tyrosinemia type 1: an overview of nursing care." @default.
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