Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias

A definitive diagnosis of primary hyperoxaluria type 1 (PH1) and primary hyperoxaluria type 2 (PH2) requires the measurement of alanine:glyoxylate aminotransferase (AGT) and glyoxylate reductase (GR) activities, respectively, in a liver biopsy. We have evaluated a molecular genetic approach for the...

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Veröffentlicht in:	Kidney international 2004-09, Vol.66 (3), p.959-963
Hauptverfasser:	RUMSBY, Gill, WILLIAMS, Emma, COULTER-MACKIE, Marion
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Factors Biological and medical sciences Errors of metabolism Evaluation Studies as Topic Genetic Testing - methods Homozygote Humans Hyperoxaluria, Primary - diagnosis Hyperoxaluria, Primary - genetics Medical sciences Metabolic diseases Miscellaneous hereditary metabolic disorders Nephrology. Urinary tract diseases Phenotype Point Mutation Polymerase Chain Reaction Transaminases - genetics
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