Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism

Deficiency of propionyl-CoA carboxylase causes propionic acidemia and deficiencies of methylmalonyl-CoA mutase or its cofactor adenosylcobalamin cause methylmalonic acidemia. These inherited disorders lead to pathological accumulation of propionyl-CoA which is converted in Krebs cycle to methylcitra...

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Bibliografiska uppgifter
I publikationen:Sci Rep
Huvudupphovsmän: Al-Dirbashi, Osama Y., Alfadhel, Majid, Al-Thihli, Khalid, Al Dhahouri, Nahid, Langhans, Claus-Dieter, Al Hammadi, Zalikha, Al-Shamsi, Aisha, Hertecant, Jozef, Okun, Jürgen G., Hoffmann, Georg F., Al-Jasmi, Fatma
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group UK 2019
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6710289/
https://ncbi.nlm.nih.gov/pubmed/31451751
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-48885-9
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