Гіпофосфатазія
ORPHA:436· ICD-10 E83.3· Hypophosphatasia
Визначення(English summary)
A rare, genetic metabolic disorder characterized by reduced activity of unfractionated serum alkaline phosphatase (ALP) and various symptoms from life-threatening, severely impaired mineralization at birth to musculo-skeletal pain in adulthood.
- Поширеність
- Unknown
- Успадкування
- Autosomal dominant, Autosomal recessive
- Вік початку
- All ages