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Document type:
journal article 
Author(s):
Staufner, Christian; Haack, Tobias B; Feyh, Patrik; Gramer, Gwendolyn; Raga, Deepthi Ediga; Terrile, Caterina; Sauer, Sven; Okun, Jürgen G; Fang-Hoffmann, Junmin; Mayatepek, Ertan; Prokisch, Holger; Hoffmann, Georg F; Kölker, Stefan 
Title:
Genetic cause and prevalence of hydroxyprolinemia. 
Abstract:
Hydroxyprolinemia is an inborn error of amino acid degradation that is considered a non-disease. Known for more than 50 years, its genetic cause and prevalence have remained unclear. In MS/MS newborn screening, the mass spectrum of hydroxyproline cannot be differentiated from isoleucine and leucine causing false positive newborn screening test results for maple syrup urine disease (MSUD).We studied two siblings with hydroxyprolinemia via exome sequencing and confirmed the candidate gene in five...    »
 
Journal title abbreviation:
J Inherit Metab Dis 
Year:
2016 
Journal volume:
39 
Journal issue:
Pages contribution:
625-632 
Language:
eng 
Print-ISSN:
0141-8955 
TUM Institution:
Institut für Humangenetik