Literature DB >> 15617190

Hyperhydroxyprolinaemia detected in newborn screening with tandem mass spectrometry.

T Baykal1, I Karaaslan, G Gokcay, F Demir, Y Laleli, M Demirkol.   

Abstract

Hydroxyproline has the same integer molecular weight as leucine and isoleucine and is quantified with these by tandem mass spectrometry. An infant was diagnosed with hyperhydroxyprolinaemia following further evaluation of an elevated "leucine" level in newborn screening by tandem mass spectrometry.

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Year:  2004        PMID： 15617190     DOI： 10.1023/b:boli.0000045839.08631.9d

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  2 in total

1.  Genetic cause and prevalence of hydroxyprolinemia.

Authors:  Christian Staufner; Tobias B Haack; Patrik Feyh; Gwendolyn Gramer; Deepthi Ediga Raga; Caterina Terrile; Sven Sauer; Jürgen G Okun; Junmin Fang-Hoffmann; Ertan Mayatepek; Holger Prokisch; Georg F Hoffmann; Stefan Kölker
Journal:  J Inherit Metab Dis       Date:  2016-05-02       Impact factor: 4.982

2.  Recall rate and positive predictive value of MSUD screening is not influenced by hydroxyproline.

Authors:  Ralph Fingerhut
Journal:  Eur J Pediatr       Date:  2008-08-06       Impact factor: 3.183
  2 in total

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