医
China Med Service
Best doctors, yours
Breaking down language, channel and process barriers in cross-border care — making the best doctors your personal doctors.
300 Grade-A partner hospitals · 3,000+ leading experts · one-stop service across all specialties
新生儿喉喘鸣、肉芽肿、腱反射消失、吞咽困难、肝脏肿大
Disseminated lipogranulomatosis (Farber disease) is acid ceramidase deficiency; subcutaneous nodules; hoarseness; arthritis; developmental regression; infantile; no cure; palliative.
Subcutaneous nodules; hoarseness; arthritis; developmental regression; infantile; ceramide accumulation; no cure
ASAH1 mutation; acid ceramidase deficiency; autosomal recessive; Farber lipogranulomatosis.
Supportive; palliative; enzyme replacement/transplant trial; metabolic/genetics; no cure
Metabolic / pediatrics / genetics / neurology.
Warm reminder: Health education reference only; seek care at regular hospital.
|
