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
Genetic testing was performed on adults diagnosed with common variable immunodeficiency at Istanbul University.
TürkiyeDiagnosis and screening
In Ankara, the genetic test results of patients diagnosed with Stargardt disease were reviewed.
TürkiyeDiagnosis and screening
At Ankara Bilkent City Hospital, 2,243 children with low ALP levels were studied.
TürkiyeDiagnosis and screening
In Samsun, patients with emphysema of the lungs were screened for alpha-1 antitrypsin deficiency.
TürkiyeDiagnosis and screening
At Marmara University, 50 patients with inherited low phosphate levels were studied genetically.
TürkiyeDiagnosis and screening
The F7 gene was studied in 34 patients at Ege University.
TürkiyeDiagnosis and screening
Eye and genetics doctors from Aydın and other provinces studied five patients with achromatopsia.
TürkiyeDiagnosis and screening
At İnönü University, the records of 70 babies with jaundice were reviewed.
TürkiyeDiagnosis and screening
Two pediatric gastroenterology centers in Ankara studied prolonged newborn jaundice.
TürkiyeDiagnosis and screening
At Marmara University, 18 pediatric patients were studied genetically.
TürkiyeDiagnosis and screening
Children with Beckwith-Wiedemann syndrome were studied at Ankara Bilkent City Hospital.