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Titel:

Genetic cause and prevalence of hydroxyprolinemia.

Dokumenttyp:
Journal Article; Article
Autor(en):
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
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...     »
Zeitschriftentitel:
J Inherit Metab Dis
Jahr:
2016
Band / Volume:
39
Heft / Issue:
5
Seitenangaben Beitrag:
625-632
Sprache:
eng
Volltext / DOI:
doi:10.1007/s10545-016-9940-2
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/27139199
Print-ISSN:
0141-8955
TUM Einrichtung:
Institut für Humangenetik
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