2015 · 108 citations · 8 references
Life SciencesGeneticsMolecular GeneticsGenetic EpidemiologyGenodermatosesPediatric NephrologyGenetic DisordersRenal DiseaseUrea CycleUrea Cycle DisordersDifferential Diagnosis CriteriaGenetic Risk StratificationGenetic Risk VariantsInborn Errors Of Urea Cycle Metabolism
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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