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Hyperhydroxyprolinaemia: a new case diagnosed during neonatal screening with tandem mass spectrometry.

作者信息

la Marca Giancarlo, Malvagia Sabrina, Pasquini Elisabetta, Donati Maria Alice, Gasperini Serena, Procopio Elena, Zammarchi Enrico

出版信息

Rapid Commun Mass Spectrom. 2005;19(6):863-4. doi: 10.1002/rcm.1861.

DOI:10.1002/rcm.1861
PMID:15723447
Abstract
摘要

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J Inherit Metab Dis. 2016 Sep;39(5):625-632. doi: 10.1007/s10545-016-9940-2. Epub 2016 May 2.
2
Recall rate and positive predictive value of MSUD screening is not influenced by hydroxyproline.
Eur J Pediatr. 2009 May;168(5):599-604. doi: 10.1007/s00431-008-0804-0. Epub 2008 Aug 6.