Rare Diseases
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
235 updates · page 12/12
TürkiyeResearch and clinical trials
Results of stem cell transplantation in children diagnosed with MPS VI at a center in Antalya have been published.
TürkiyeResearch and clinical trials
The ministry's national health records were searched.
United KingdomResearch and clinical trials
In England, 89 patients with pyruvate kinase deficiency were identified from health records.
TürkiyeResearch and clinical trials
Hacettepe University studied 50 patients diagnosed between 1984 and 2020.
EuropeResearch and clinical trials
In a study led by Germany, with centers from Türkiye also taking part, up to 658 patients with ARPKD were studied.
EuropeResearch and clinical trials
Irbesartan was tested in a trial with 57 adults with vascular EDS.
GlobalResearch and clinical trials
A gene therapy in patients with LHON due to an MT-ND4 gene change was followed for 5 years.
TürkiyeResearch and clinical trials
At Hacettepe University in Ankara, the eye blood vessels of patients with Fanconi anemia were studied.
GlobalResearch and clinical trials
In six countries, including Türkiye, 66 HoFH patients took two drugs one after the other.
EuropeDiagnosis and screening
In Europe, 37 expert centers re-examined data on rare diseases that had not been diagnosed.
TürkiyeResearch and clinical trials
In Istanbul, 311 CMT patients from 265 families were studied.
TürkiyeDiagnosis and screening
At Marmara University, 18 pediatric patients were studied genetically.
TürkiyeResearch and clinical trials
Doctors from Ankara Bilkent City Hospital studied children with Cornelia de Lange syndrome.
TürkiyeDiagnosis and screening
Children with Beckwith-Wiedemann syndrome were studied at Ankara Bilkent City Hospital.
USADiagnosis and screening
In New York City, USA, babies are screened with genome sequencing in addition to the heel-prick blood test.