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Disease: Methylmalonic aciduria cblA type

  • Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia
  • Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to <em>MMAA</em> mutations
  • Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut
  • Increased C3 Acylcarnitine Concentration in a Newborn
  • Isolated Methylmalonic Acidemia
  • Isolation and Expression of a cDNA Encoding Methylmalonic Aciduria Type A Protein from Euglena gracilis Z
  • Methylmalonic aciduria: newborn screening in mainland China?
  • Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings
  • Molecular and biochemical alterations in tubular epithelial cells of patients with isolated methylmalonic aciduria
  • Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias
  • Pregnancy in a methylmalonic acidemia patient with kidney transplantation: a case report
  • Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria
  • Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up
  • Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation
  • Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia
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