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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6710289/
https://www.ncbi.nlm.nih.gov/pubmed/31451751
http://dx.doi.org/10.1038/s41598-019-48885-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6710289/
https://www.ncbi.nlm.nih.gov/pubmed/31451751
http://dx.doi.org/10.1038/s41598-019-48885-9

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