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

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: The relia...

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Detalles Bibliográficos
Autores principales: Janzen, Nils, Hofmann, Alejandro D., Schmidt, Gunnar, Das, Anibh M., Illsinger, Sabine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740567/
https://www.ncbi.nlm.nih.gov/pubmed/29268767
http://dx.doi.org/10.1186/s13023-017-0737-7

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