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...
Uloženo v:
| Hlavní autoři: | , , , , |
|---|---|
| Médium: | Kniha |
| Vydáno: |
Elsevier,
2020-04-01T00:00:00Z.
|
| Témata: | |
| On-line přístup: | Connect to this object online. |
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!
|
Internet
Connect to this object online.3rd Floor Main Library
| Signatura: |
A1234.567 |
|---|---|
| Jednotka 1 | Dostupné |