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Urea Cycle Disorders Overview.

Source

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2003 Apr 29 [updated 2017 Jun 22].

Author information

1
Children’s National Rare Disease Institute, Children’s National Health System, Washington, DC
2
Department of Pediatrics, Division of Neurology, Children’s National Health System, Washington, DC
3
Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota

Excerpt

The goals of this overview on urea cycle disorders are the following: GOAL 1: To define the urea cycle and to describe the clinical characteristics of urea cycle disorders GOAL 2: To review the causes of urea cycle disorders and their prevalence GOAL 3: To provide an evaluation strategy to identify the specific type and genetic cause of a urea cycle defect in a proband GOAL 4: To review the differential diagnosis of urea cycle disorders GOAL 5: To inform genetic risk assessment in family members of the proband GOAL 6: To provide a brief summary of the acute management of a urea cycle disorder

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