Rare Diseases
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
122 updates · page 4/7
TürkiyeDiagnosis and screening
In Samsun, 563 patients with bronchiectasis but without emphysema were screened.
TürkiyeResearch and clinical trials
Eye doctors at Ankara University studied the eyes of 50 people with albinism.
TürkiyeResearch and clinical trials
Eye doctors at Başkent University studied the eyes of 34 patients with Alport syndrome.
TürkiyeResearch and clinical trials
The SAMHD1 gene causes one type of Aicardi-Goutières syndrome.
TürkiyeDiagnosis and screening
In Istanbul, broad gene testing was performed in 17 babies with congenital diaphragmatic hernia.
TürkiyeResearch and clinical trials
Ege University reviewed the records of 30 children with Pompe disease.
TürkiyeResearch and clinical trials
Patients with Joubert syndrome were studied at Istanbul University-Cerrahpaşa.
TürkiyeResearch and clinical trials
In Diyarbakır, 48 Turner patients who received growth hormone and reached their final height were studied.
TürkiyeResearch and clinical trials
At Marmara University, 17 children diagnosed with ARPKD were studied.
TürkiyeResearch and clinical trials
In the Marmara Region, 9 pediatric metabolic centers studied children with mitochondrial disease.
TürkiyeResearch and clinical trials
In Izmir, 39 children with very high LDL cholesterol were studied.
TürkiyeDiagnosis and screening
At Hacettepe University, the sleep recordings of 7 people with Creutzfeldt-Jakob disease were studied.
TürkiyeResearch and clinical trials
In Rize and Istanbul, 6 patients with ichthyosis due to the ALOX12B gene were studied.
TürkiyeResearch and clinical trials
At Ankara Bilkent City Hospital, 24 children with myotonic dystrophy type 1 were studied.
TürkiyeResearch and clinical trials
In Istanbul, 25 patients were tested with a multigene panel.
TürkiyeDiagnosis and screening
Ege University applied a scoring chart to 38 patients with a confirmed genetic diagnosis of FCS.
TürkiyeResearch and clinical trials
In Istanbul, 24 babies diagnosed with infantile spasms were monitored during low-dose ACTH treatment.
TürkiyeResearch and clinical trials
Istanbul Faculty of Medicine studied 54 women with Wilson disease.
TürkiyeResearch and clinical trials
A total of 48 patients from different regions of Türkiye underwent eye and ear examinations.
TürkiyeResearch and clinical trials
Led by Istanbul University-Cerrahpaşa, a survey was conducted with families of children with Still's disease.