Rare Diseases
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
97 updates · page 5/5
TürkiyeResearch and clinical trials
Doctors from many provinces of Türkiye studied GPA patients whose disease started with joint inflammation.
TürkiyeResearch and clinical trials
At Hacettepe, 72 patients with 22q11.2 deletion (DiGeorge) syndrome were followed.
TürkiyeResearch and clinical trials
Çukurova University studied 51 cystinosis patients with brain, nerve and hearing tests.
TürkiyeResearch and clinical trials
Pediatric endocrinology centers in Türkiye studied 69 children with Silver-Russell syndrome.
TürkiyeResearch and clinical trials
The records of 187 CTEPH patients from eight specialist centers in Türkiye were reviewed.
TürkiyeResearch and clinical trials
At Hacettepe, 29 children with a change in the NPHS1 gene were studied.
TürkiyeResearch and clinical trials
Hacettepe University reviewed 491 children with retinoblastoma it had followed over 51 years.
TürkiyeResearch and clinical trials
Eye doctors from Türkiye and Egypt studied children with raised eye pressure due to Sturge-Weber syndrome.
TürkiyeResearch and clinical trials
Records of 29 people with type 1 Gaucher disease at a single center in Türkiye were reviewed.
TürkiyeResearch and clinical trials
Results of stem cell transplantation in children diagnosed with MPS VI at a center in Antalya have been published.
TürkiyeResearch and clinical trials
The ministry's national health records were searched.
TürkiyeResearch and clinical trials
According to the Federation of Hemophilia Associations, 46 hemophilia patients in Türkiye received gene therapy in clinical trials.
TürkiyeResearch and clinical trials
Hacettepe University studied 50 patients diagnosed between 1984 and 2020.
TürkiyeResearch and clinical trials
At Hacettepe University in Ankara, the eye blood vessels of patients with Fanconi anemia were studied.
TürkiyeResearch and clinical trials
In Istanbul, 311 CMT patients from 265 families were studied.
TürkiyeResearch and clinical trials
Doctors from Ankara Bilkent City Hospital studied children with Cornelia de Lange syndrome.
TürkiyeResearch and clinical trials
Two gene therapy clinical trials are being carried out at Gazi University.