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Dokumenttyp:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
Danhauser, K; Sauer, SW; Haack, TB; Wieland, T; Staufner, C; Graf, E; Zschocke, J; Strom, TM; Traub, T; Okun, JG; Meitinger, T; Hoffmann, GF; Prokisch, H; Kolker, S
Titel:
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.
Abstract:
Abnormalities in metabolite profiles are valuable indicators of underlying pathologic conditions at the molecular level. However, their interpretation relies on detailed knowledge of the pathways, enzymes, and genes involved. Identification and characterization of their physiological function are therefore crucial for our understanding of human disease: they can provide guidance for therapeutic intervention and help us to identify suitable biomarkers for monitoring associated disorders. We studi...     »
Zeitschriftentitel:
Am J Hum Genet
Jahr:
2012
Band / Volume:
91
Heft / Issue:
6
Seitenangaben Beitrag:
1082-7
Sprache:
eng
Volltext / DOI:
doi:10.1016/j.ajhg.2012.10.006
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/23141293
Print-ISSN:
0002-9297
TUM Einrichtung:
Institut für Humangenetik
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