Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis

Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis

Abstract Background The aim of the present study was to establish a non-invasive, fast and robust enzymatic assay to confirm fatty acid oxidation defects (FAOD) in humans following informative newborn-screening or for selective screening of patients suspected to suffer from FAOD. Material/methods Th...

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Bibliographic Details
Main Authors: Nils Janzen, Alejandro D. Hofmann, Gunnar Schmidt, Anibh M. Das, Sabine Illsinger
Format: Article
Language:English
Published: BMC 2017-12-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Fatty acid oxidation
Tandem mass spectrometry
SCADD
MCADD
VLCADD
LCHADD
Online Access:http://link.springer.com/article/10.1186/s13023-017-0737-7

Internet

http://link.springer.com/article/10.1186/s13023-017-0737-7

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