Methylmalonová acidurie způsobená poruchou v transkobalaminovém receptoru
ORPHA:280183· ICD-10 E71.1· Methylmalonic aciduria due to transcobalamin receptor defect
- Prevalence
- <1 / 1 000 000
- Dědičnost
- Autosomal recessive
- Věk nástupu
- Infancy, Neonatal
ORPHA:280183· ICD-10 E71.1· Methylmalonic aciduria due to transcobalamin receptor defect