TürkiyeDiagnosis and screening
Two new gene changes found in three families with achromatopsia in Türkiye
Eye and genetics doctors from Aydın and other provinces studied five patients with achromatopsia.
Peer-reviewed publicationAchromatopsia
Rare Diseases
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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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TürkiyeResearch and clinical trials
Ectodermal dysplasia in 25 families from Türkiye: seven new gene changes
Genetics centers in Türkiye studied 32 people with hypohidrotic ectodermal dysplasia.
Peer-reviewed publicationEctodermal (HED)
TürkiyeResearch and clinical trials
Joint involvement in 56 GPA patients in Türkiye: in most, many joints were affected at once
Doctors from many provinces of Türkiye studied GPA patients whose disease started with joint inflammation.
Peer-reviewed publicationGPA (Wegener's)
TürkiyeHealth policy
Turkish Society for Rheumatology publishes first national diagnosis and treatment recommendations for Takayasu arteritis
The Takayasu working group of the Turkish Society for Rheumatology published the first national recommendations.
Peer-reviewed publicationTakayasu
TürkiyeResearch and clinical trials
72 DiGeorge patients in Ankara: immune findings and signs of a severe course studied
At Hacettepe, 72 patients with 22q11.2 deletion (DiGeorge) syndrome were followed.
Peer-reviewed publicationDiGeorge (22q11)
TürkiyeResearch and clinical trials
51 cystinosis patients in Çukurova: nervous system involvement in one in two patients
Çukurova University studied 51 cystinosis patients with brain, nerve and hearing tests.
Peer-reviewed publicationCystinosis
TürkiyeResearch and clinical trials
Growth hormone response in 69 children with Silver-Russell syndrome: a multicenter study in Türkiye
Pediatric endocrinology centers in Türkiye studied 69 children with Silver-Russell syndrome.
Peer-reviewed publicationSilver-Russell
TürkiyeDiagnosis and screening
Simple diagnostic score based on three findings developed for biliary atresia in Malatya
At İnönü University, the records of 70 babies with jaundice were reviewed.
Peer-reviewed publicationBiliary atresia
TürkiyeResearch and clinical trials
187 CTEPH patients from 8 centers in Türkiye: other conditions often affect the surgery decision
The records of 187 CTEPH patients from eight specialist centers in Türkiye were reviewed.
Peer-reviewed publicationCTEPH
TürkiyeDiagnosis and screening
Causes of jaundice in 378 babies in Ankara: inherited diseases such as PFIC account for a significant share
Two pediatric gastroenterology centers in Ankara studied prolonged newborn jaundice.
Peer-reviewed publicationPFIC
TürkiyeResearch and clinical trials
29 children with congenital nephrotic syndrome in Ankara: kidney removal reduced the burden in selected patients
At Hacettepe, 29 children with a change in the NPHS1 gene were studied.
Peer-reviewed publicationFinnish-type nephrotic
TürkiyeResearch and clinical trials
Long-term follow-up of 491 children with retinoblastoma at Hacettepe: 13 developed a second cancer
Hacettepe University reviewed 491 children with retinoblastoma it had followed over 51 years.
Peer-reviewed publicationRetinoblastoma
TürkiyeResearch and clinical trials
Childhood glaucoma in Sturge-Weber syndrome: surgical results in 22 eyes from Türkiye
Eye doctors from Türkiye and Egypt studied children with raised eye pressure due to Sturge-Weber syndrome.
Peer-reviewed publicationSturge-Weber
TürkiyeResearch and clinical trials
In Türkiye, enzyme therapy improved blood values and shrank the spleen in 29 patients with Gaucher disease
Records of 29 people with type 1 Gaucher disease at a single center in Türkiye were reviewed.
Peer-reviewed publicationGaucher
TürkiyeResearch and clinical trials
Stem cell transplantation in 17 children with MPS VI in Antalya: all engrafted, enzyme levels normalized
Results of stem cell transplantation in children diagnosed with MPS VI at a center in Antalya have been published.
Peer-reviewed publicationMaroteaux-Lamy
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
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
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
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
TürkiyeDiagnosis and screening
Gene panel in 18 patients with hereditary spherocytosis in Istanbul: 9 new gene changes identified
At Marmara University, 18 pediatric patients were studied genetically.
Peer-reviewed publicationSpherocytosis