TürkiyeDiagnosis and screening
Fabry screening of dialysis patients in Ankara: one patient led to 6 carriers in the family
In Ankara, 1,359 patients at 8 dialysis centers had a gene test for Fabry disease.
Peer-reviewed publicationFabry
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
Pulmonary artery surgery in 6 children with CTEPH in Istanbul: pressure fell markedly
At Marmara University, 6 patients under 18 years of age underwent 7 operations between 2011–2025.
Peer-reviewed publicationCTEPH
TürkiyeResearch and clinical trials
Primary hyperoxaluria in 88 children from 15 centers in Türkiye: kidney loss is common when diagnosis is late
In Türkiye, pediatric kidney doctors studied children with primary hyperoxaluria in a national registry.
Peer-reviewed publicationPH1
TürkiyeResearch and clinical trials
134 adults with PKU found through newborn screening in Istanbul: those who manage their own diet do better
A total of 134 adults with phenylketonuria followed at Istanbul Faculty of Medicine were studied.
Peer-reviewed publicationPKU
TürkiyeResearch and clinical trials
MPS IVA and VI patients on enzyme therapy in Istanbul: leg findings improved slightly over two years
In Istanbul, 14 MPS patients receiving enzyme therapy were followed for two years.
Peer-reviewed publicationMorquio A
TürkiyeDiagnosis and screening
In Ankara, symptoms were found to vary widely in 14 patients with Niemann-Pick type C
At Ankara City Hospital, 14 patients diagnosed with Niemann-Pick type C were reviewed.
Peer-reviewed publicationNPC
TürkiyeResearch and clinical trials
Moving to adult care in DMD in Türkiye: most patients found the preparation inadequate
In Türkiye, the move of young people with DMD (Duchenne muscular dystrophy) from child neurology to adult neurology was studied.
Peer-reviewed publicationDMD
TürkiyeDiagnosis and screening
Genetic childhood dystonia in Türkiye: 26 genes found in 81 children, 7 with the DYT1 gene
In Türkiye, 81 children from 19 centers were studied.
Peer-reviewed publicationDYT1 dystonia
TürkiyeResearch and clinical trials
70 Guillain-Barré patients over 10 years in Istanbul: the picture stayed similar before and after the pandemic
At Ümraniye Training and Research Hospital, 70 adult patients seen from 2015–2025 were studied.
Peer-reviewed publicationGuillain-Barré
TürkiyeResearch and clinical trials
Attention and behavior problems more common in 27 children with hereditary spherocytosis in Gaziantep
Gaziantep City Hospital studied 27 children.
Peer-reviewed publicationSpherocytosis
TürkiyeResearch and clinical trials
50 GA1 patients in Türkiye not detected by screening: late diagnosis left lasting damage
Two centers in Istanbul reviewed the records of 50 children diagnosed with GA1.
Peer-reviewed publicationGlutaric aciduria 1
TürkiyeResearch and clinical trials
6 patients with mild citrullinemia type 1 from Istanbul: no crises, but learning problems are common
At Cerrahpaşa, 6 children diagnosed with a mild form of citrullinemia type 1 were followed over a long period.
Peer-reviewed publicationCitrullinemia type 1
TürkiyeResearch and clinical trials
20 years of infection data published for 39 children with aplastic anemia in Izmir
A total of 39 children with aplastic anemia followed at Ege University from 2004–2024 were studied.
Peer-reviewed publicationAplastic anemia
TürkiyeResearch and clinical trials
Low bone density found in 39.5% of 76 patients with severe congenital neutropenia in Türkiye
In Türkiye, 76 patients at 6 centers were studied.
Peer-reviewed publicationCongenital neutropenia
TürkiyeResearch and clinical trials
Emergency visits by children with MSUD in Istanbul: uric acid in the blood may show attack risk early
Visits to a pediatric emergency department in Istanbul between 2016–2025 were studied.
Peer-reviewed publicationMSUD
TürkiyeDiagnosis and screening
Genetic testing in 63 adults with suspected inherited kidney disease in Ankara: Alport was the most common diagnosis
At Ankara University, 63 adults with kidney disease of unknown cause underwent genetic testing.
Peer-reviewed publicationAlport
TürkiyeResearch and clinical trials
Attacks in children with FMF rose temporarily after the 2023 earthquake
Data from 963 children with FMF (familial Mediterranean fever) at 15 centers in Türkiye were reviewed.
Peer-reviewed publicationFMF
TürkiyeDiagnosis and screening
10 patients with FOP at Hacettepe: four had a potentially harmful biopsy before diagnosis
Hacettepe University studied 10 patients diagnosed with FOP.
Peer-reviewed publicationFOP
TürkiyeResearch and clinical trials
31 children with limb-girdle muscular dystrophy at Çukurova: calpainopathy was the most common type
Records of children with limb-girdle muscular dystrophy were reviewed at Çukurova University.
Peer-reviewed publicationLGMD
TürkiyeResearch and clinical trials
51 children of Turkish origin with CAPS living in Türkiye and Germany compared
Led by Hacettepe University, children of Turkish origin with CAPS were studied in two countries.
Peer-reviewed publicationCAPS