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 5/7
TürkiyeDiagnosis and screening
Genetic testing was performed on adults diagnosed with common variable immunodeficiency at Istanbul University.
TürkiyeResearch and clinical trials
At Istanbul Cerrahpaşa, 12 patients from eight families were studied.
TürkiyeResearch and clinical trials
Genetics teams in Ankara and Trabzon studied patients with Kabuki syndrome.
TürkiyeResearch and clinical trials
Children with HSP who had received a genetic diagnosis at a center in Adana were reviewed retrospectively.
TürkiyeResearch and clinical trials
Patients with FMF (familial Mediterranean fever) in Türkiye were counted using the Ministry of Health's e-Nabız records.
TürkiyeResearch and clinical trials
In Ankara, eye doctors followed five children with VKH disease over a long period.
TürkiyeResearch and clinical trials
Istanbul University gave choline for 8 weeks to 15 patients whose homocysteine remained high despite treatment.
TürkiyeResearch and clinical trials
A total of 252 Takayasu patients from 11 rheumatology centers in Türkiye were studied.
TürkiyeResearch and clinical trials
In Eskişehir, 350 muscle biopsies taken between 2013 and 2024 were reviewed retrospectively.
TürkiyeResearch and clinical trials
At an eye center in southern Türkiye, surgeries for congenital glaucoma (high eye pressure present from birth) were reviewed.
TürkiyeDiagnosis and screening
In Ankara, the genetic test results of patients diagnosed with Stargardt disease were reviewed.
TürkiyeDiagnosis and screening
At Ankara Bilkent City Hospital, 2,243 children with low ALP levels were studied.
TürkiyeDiagnosis and screening
In Samsun, patients with emphysema of the lungs were screened for alpha-1 antitrypsin deficiency.
TürkiyeResearch and clinical trials
Patients with GSD type 1 followed in Ankara between 2000 and 2024 were studied.
TürkiyeResearch and clinical trials
The Ministry of Health's e-health records from 2015–2024 were searched.
TürkiyeDiagnosis and screening
At Marmara University, 50 patients with inherited low phosphate levels were studied genetically.
TürkiyeResearch and clinical trials
Çukurova University reviewed the records of 132 patients with a confirmed genetic diagnosis.
TürkiyeDiagnosis and screening
The F7 gene was studied in 34 patients at Ege University.
TürkiyeResearch and clinical trials
Hacettepe University measured anxiety in children with inherited rhythm disorders and in their families.
TürkiyeResearch and clinical trials
In Türkiye, 215 patients from 19 hematology centers were enrolled in the registry.