Clinical presentation,molecular analysis and follow-up of patients with mut methylmalonic acidemia in Shandong province,China |
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| Affiliation: | 1. Jinan Maternal and Child Care Hospital, Jinan 250001, Shandong Province, China;2. Department of Immunology, Nanjing Medical University, Nanjing 211166, Jiangsu Province, China;3. Nanjing Jiangning Hospital, Affiliated to Nanjing Medical University, Nanjing 211100, Jiangsu Province, China |
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| Keywords: | follow-up isolated methylmalonic acidemia methylmalonyl-CoA mutase MMA" },{" #name" :" keyword" ," $" :{" id" :" kwrd0035" }," $$" :[{" #name" :" text" ," _" :" Methylmalonic acidemia MCM" },{" #name" :" keyword" ," $" :{" id" :" kwrd0045" }," $$" :[{" #name" :" text" ," _" :" methymalonyl-CoA mutase AdoCbl" },{" #name" :" keyword" ," $" :{" id" :" kwrd0055" }," $$" :[{" #name" :" text" ," _" :" adenosylcobalamin C3" },{" #name" :" keyword" ," $" :{" id" :" kwrd0065" }," $$" :[{" #name" :" text" ," _" :" propionylcarnitine C2" },{" #name" :" keyword" ," $" :{" id" :" kwrd0075" }," $$" :[{" #name" :" text" ," _" :" acetylcarnitine BCAA" },{" #name" :" keyword" ," $" :{" id" :" kwrd0085" }," $$" :[{" #name" :" text" ," _" :" branched-chain amino acid DQ" },{" #name" :" keyword" ," $" :{" id" :" kwrd0095" }," $$" :[{" #name" :" text" ," _" :" developmental quotient IQ" },{" #name" :" keyword" ," $" :{" id" :" kwrd0105" }," $$" :[{" #name" :" text" ," _" :" intelligence quotient ALT" },{" #name" :" keyword" ," $" :{" id" :" kwrd0115" }," $$" :[{" #name" :" text" ," _" :" aspartate transaminase AST" },{" #name" :" keyword" ," $" :{" id" :" kwrd0125" }," $$" :[{" #name" :" text" ," _" :" alanine transaminase |
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