Clinical presentation, molecular analysis and follow-up of patients with mut methylmalonic acidemia in Shandong province, China
Background: The mut methylmalonic acidemia (MMA) caused by the deficiency of methylmalonyl-CoA mutase (MCM) activity, which results from defects in the MUT gene. The aim of this study was to summarize the clinical and biochemical data, spectrum of mutations, treatment regime and follow-up of patient...
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| Main Authors: | , , , , |
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| Format: | Book |
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Elsevier,
2020-04-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |