TürkiyeResearch and clinical trials
National health records: NMOSD affects about 2 in 100,000 people in Türkiye
The ministry's national health records were searched.
Peer-reviewed publicationNMOSD
Rare Diseases
News
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
190 updates · page 10/10
United KingdomResearch and clinical trials
Data from England: in pyruvate kinase deficiency, the risk of death is five times higher than in peers
In England, 89 patients with pyruvate kinase deficiency were identified from health records.
Peer-reviewed publicationPK deficiency
TürkiyeResearch and clinical trials
Long-term outcomes of 50 patients with propionic acidemia from Hacettepe
Hacettepe University studied 50 patients diagnosed between 1984 and 2020.
Peer-reviewed publicationPropionic acidemia
EuropeResearch and clinical trials
International study of 658 patients with ARPKD: a score predicting kidney risk at two months of age developed
In a study led by Germany, with centers from Türkiye also taking part, up to 658 patients with ARPKD were studied.
Peer-reviewed publicationARPKD
EuropeResearch and clinical trials
Blood pressure drug irbesartan reduced vascular events over two years in vascular EDS
Irbesartan was tested in a trial with 57 adults with vascular EDS.
Peer-reviewed publicationVascular EDS
GlobalResearch and clinical trials
Gene therapy given to one eye in LHON: similar improvement seen in both eyes over 5 years
A gene therapy in patients with LHON due to an MT-ND4 gene change was followed for 5 years.
Peer-reviewed publicationLHON
TürkiyeResearch and clinical trials
Hacettepe: fewer eye blood vessels in Fanconi anemia even when the back of the eye looks normal
At Hacettepe University in Ankara, the eye blood vessels of patients with Fanconi anemia were studied.
Peer-reviewed publicationFanconi anemia
GlobalResearch and clinical trials
Lerodalcibep phase 3 trial in HoFH: expected equivalence not shown on the main goal
In six countries, including Türkiye, 66 HoFH patients took two drugs one after the other.
Peer-reviewed publicationHoFH
TürkiyeResearch and clinical trials
Genetic map of 311 CMT patients in Türkiye: recessively inherited types more common
In Istanbul, 311 CMT patients from 265 families were studied.
Peer-reviewed publicationCMT
TürkiyeResearch and clinical trials
Gene findings in 17 patients with Cornelia de Lange syndrome published from Ankara
Doctors from Ankara Bilkent City Hospital studied children with Cornelia de Lange syndrome.
Peer-reviewed publicationCornelia de Lange