Rare Diseases
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
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TürkiyeDiagnosis and screening
A laboratory study in Ankara examined factors that affect the result of biotinidase screening.
TürkiyeResearch and clinical trials
In Erzincan, face-to-face interviews were held with adults with retinitis pigmentosa.
TürkiyeResearch and clinical trials
In Konya, 72 Hirschsprung patients operated on between 2011–2023 were studied.
TürkiyeResearch and clinical trials
In Türkiye, the records of 274 adult patients at 16 centers were reviewed.
TürkiyeResearch and clinical trials
The 9th Hematologic Rare Diseases Congress brought together about 300 scientists.
TürkiyeResearch and clinical trials
Istanbul's Zeynep Kamil Hospital retrospectively reviewed ten years of records.
TürkiyeDiagnosis and screening
A total of 21 patients from four pediatric neurology centers were studied.
TürkiyeResearch and clinical trials
At two centers in Izmir, 35 patients were compared with 20 healthy children.
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.
TürkiyeSGK and reimbursement
On January 17, 2026, migalastat, used in Fabry disease, was added to the SGK (Social Security Institution) reimbursement list.
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.