Simple non-radiochemical HPLC-linked method for screening for purine metabolism disorders using dried blood spot

Background: Pathologies associated with rare inherited disorders affecting purine metabolic pathways range from renal failure to neurological dysfunction and immunodeficiency. The disorders are usually diagnosed by measuring enzyme activities in hemolysates. A non-radiochemical HPLC-linked method is...

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Veröffentlicht in:	Clinica chimica acta 2002-10, Vol.324 (1), p.135-139
Hauptverfasser:	Jacomelli, Gabriella, Micheli, Vanna, Peruzzi, Luana, Notarantonio, Laura, Cerboni, Barbara, Sestini, Silvia, Pompucci, Giuseppe
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Amino Acid Metabolism, Inborn Errors - blood Amino Acid Metabolism, Inborn Errors - diagnosis Amino Acid Metabolism, Inborn Errors - enzymology Biological and medical sciences Chromatography, High Pressure Liquid - methods Dried blood spot HPLC-linked method Humans Investigative techniques, diagnostic techniques (general aspects) Medical sciences Miscellaneous. Technology Newborn screening Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques Pentosyltransferases - blood Pentosyltransferases - metabolism Purine disorders Purines - blood Purines - metabolism Sensitivity and Specificity Temperature
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