Laboratory evaluation of urea cycle disorders

The urea cycle disorders (UCDs) represent a group of inherited metabolic diseases with hyperammonemia as the primary laboratory abnormality. Affected individuals may become comatose or die if not treated rapidly. Diagnosis of a UCD requires a high index of suspicion and judicious use of the laborato...

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Veröffentlicht in:	The Journal of pediatrics 2001-01, Vol.138 (1), p.S21-S29
Hauptverfasser:	Steiner, Robert D., Cederbaum, Stephen D.
Format:	Artikel
Sprache:	eng
Schlagworte:	Algorithms Amino Acid Metabolism, Inborn Errors - diagnosis Biological and medical sciences Citrulline - metabolism DNA Mutational Analysis Humans Hyperammonemia - diagnosis Hyperammonemia - etiology Investigative techniques, diagnostic techniques (general aspects) Medical sciences Metabolic diseases Orotic Acid - urine Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques Urea - metabolism
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