Prospective management of a child with neonatal citrullinemia

Melnyk, Andrew R.; Matalon, Reuben; Henry, Beverly; Zeller, W. Patrick; Lange, Charles F.

doi:10.1016/s0022-3476(05)83497-3

Cited by 7 publications

(3 citation statements)

References 6 publications

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“…There is strong support for the idea that screening would result in longer, healthier patient lives [5–9,25,26,33,37,40,41,47,48,85–97]. The data in this article, however, relied on several studies with a small number of cases and on expert opinion.…”

Section: Discussionmentioning

confidence: 99%

“…Children with an IEM may present later in life with physical or developmental delay, or metabolic crises. Many IEMs can be treated by restrictive diets and medications to greatly reduce and prevent mortality and morbidity, including mental retardation, severe neurological disease, and physical deformity [2–9]. Early diagnosis and treatment generally improves outcomes.…”

Section: Introductionmentioning

confidence: 99%

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The Cost-Effectiveness of Expanding Newborn Screening for up to 21 Inherited Metabolic Disorders Using Tandem Mass Spectrometry: Results from a Decision-Analytic Model

2007

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Early diagnosis and treatment of metabolic disease is important to reduce disease severity and delay or prevent the onset of the disease. Screening at birth reduces the morbidity, mortality, and social burden associated with the irreversible effects of disease on the population. Our analysis suggests that the cost-efficiencies gained by using MS/MS to screen for bundles of diseases rather than just one disease are sufficient to warrant consideration of an expanded screening program. It is, however, not cost-effective to screen for all diseases that can be screened for using this technology.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

The Cost-Effectiveness of Expanding Newborn Screening for up to 21 Inherited Metabolic Disorders Using Tandem Mass Spectrometry: Results from a Decision-Analytic Model

2007

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“…The other way is prospective management of citrullinemia. There have been two reports of prospective management of the metabolic disorder, 8,9 so their cases may not have been as severe. However, more aggressive treatments, including hemodialysis and hemofiltration, are often performed to lower the plasma ammonia concentration in the most severe cases 10−12 .…”

Section: Discussionmentioning

confidence: 99%