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 4/5
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.
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
In Istanbul, a 28-year-old patient received a stem cell transplant and recovered.
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.
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.
TürkiyeResearch and clinical trials
Çukurova University reviewed the records of 132 patients with a confirmed genetic diagnosis.
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.
TürkiyeResearch and clinical trials
Genetics centers in Türkiye studied 32 people with hypohidrotic ectodermal dysplasia.