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 2/5
TürkiyeResearch and clinical trials
In Istanbul, 14 MPS patients receiving enzyme therapy were followed for two years.
TürkiyeResearch and clinical trials
In Türkiye, the move of young people with DMD (Duchenne muscular dystrophy) from child neurology to adult neurology was studied.
TürkiyeResearch and clinical trials
At Ümraniye Training and Research Hospital, 70 adult patients seen from 2015–2025 were studied.
TürkiyeResearch and clinical trials
Gaziantep City Hospital studied 27 children.
TürkiyeResearch and clinical trials
Two centers in Istanbul reviewed the records of 50 children diagnosed with GA1.
TürkiyeResearch and clinical trials
At Cerrahpaşa, 6 children diagnosed with a mild form of citrullinemia type 1 were followed over a long period.
TürkiyeResearch and clinical trials
A total of 39 children with aplastic anemia followed at Ege University from 2004–2024 were studied.
TürkiyeResearch and clinical trials
In Türkiye, 76 patients at 6 centers were studied.
TürkiyeResearch and clinical trials
Visits to a pediatric emergency department in Istanbul between 2016–2025 were studied.
TürkiyeResearch and clinical trials
Data from 963 children with FMF (familial Mediterranean fever) at 15 centers in Türkiye were reviewed.
TürkiyeResearch and clinical trials
Records of children with limb-girdle muscular dystrophy were reviewed at Çukurova University.
TürkiyeResearch and clinical trials
Led by Hacettepe University, children of Turkish origin with CAPS were studied in two countries.
TürkiyeResearch and clinical trials
The heart findings of children with Marfan syndrome were studied at Ordu University.
TürkiyeResearch and clinical trials
Under the supervision of the Ministry of Health, pregnancy outcomes of women with systemic sclerosis across Türkiye were studied.
TürkiyeResearch and clinical trials
A center in Istanbul studied syndromes in which the skull bones fuse early.
TürkiyeResearch and clinical trials
Ear, nose, and throat doctors at Hacettepe University studied the inner ear of patients with CHARGE syndrome.
TürkiyeResearch and clinical trials
In Türkiye, 12 centers jointly studied 69 patients from 52 families.
TürkiyeResearch and clinical trials
Çanakkale Onsekiz Mart University reported five patients diagnosed with LAM over the past two years.
TürkiyeResearch and clinical trials
In Samsun, the records of 69 children diagnosed with Behçet's disease were reviewed.
TürkiyeResearch and clinical trials
In Türkiye, 107 children with MKD were studied at 25 pediatric rheumatology centers.