Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia

Lignende værker

• Development and Validation of a GC-FID Method for Diagnosis of Methylmalonic Acidemia
  af: Keyfi, Fatemeh, et al.
  Udgivet: (2016)
• Methylmalonic Acidemia Diagnosis by Laboratory Methods
  af: Keyfi, Fatemeh, et al.
  Udgivet: (2016)
• Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings
  af: Lin, Yiming, et al.
  Udgivet: (2018)
• IDENTIFICATION OF A NOVEL MUTATION IN THE MMAA GENE IN A CHINESE BOY WITH ISOLATED METHYLMALONIC ACIDEMIA
  af: Tang, D., et al.
  Udgivet: (2020)
• Gene Frequencies of Methylmalonic Acidemia Disease at the Global Level and Compiling the Pathogenic Mutations in the Iranian Population
  af: Ghazaleh Malekizadeh, et al.
  Udgivet: (2023-02-01)