
Clinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong province, China
Keywords: MMA, methylmalonic acidemia; MCM, methymalonyl-CoA mutase; AdoCbl, adenosylcobalamin; MeCbl, methylcobalamin; C3, propionylcarnitine; C2, acetylcarnitine; tHcy, total plasma homocysteine; OHCbl, hydroxocobalamin; DQ, developmental quotientMethylmalonic ac