Enzephalopathie der Kindheit durch Thiamin-Pyrophosphokinase-Mangel
ORPHA:293955· ICD-10 G96.8· Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
- Prävalenz
- <1 / 1 000 000
- Vererbung
- Autosomal recessive
- Erkrankungsalter
- Infancy, Neonatal