Yano, S

Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome. [electronic resource] - Journal of inherited metabolic disease 2003 - 481-8 p. digital

Publication Type: Case Reports; Journal Article

0141-8955

10.1023/a:1025125427868 doi


Carbon-Carbon Ligases--deficiency
Child, Preschool
DNA, Mitochondrial--genetics
Female
Gene Deletion
Humans
Infant
Male
Methylmalonic Acid--urine
Mitochondrial Diseases--genetics
Phenotype
Propionic Acidemia
Syndrome