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

Al-Dirbashi, O; Alfadhel, M; Al-Thihli, K; Al Dhahouri, N; Langhans, CD; Al Hammadi, Z; Al-Shamsi, A; Hertecant, J; Okun, JG; Hoffmann, GF; Al-Jasmi, F

Al-Dirbashi, O (reprint author), UAE Univ, Coll Med & Hlth Sci, Al Ain, U Arab Emirates.; Al-Dirbashi, O (reprint author), Childrens Hosp Eastern Ontario, Newborn Screening Ontario, Ottawa, ON, Canada.; Al-Dirbashi, O (reprint author), Univ Ottawa, Dept P

SCIENTIFIC REPORTS, 2019; 9 ():

Abstract

Deficiency of propionyl-CoA carboxylase causes propionic acidemia and deficiencies of methylmalonyl-CoA mutase or its cofactor adenosylcobalamin cause......

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