TürkiyeResearch and clinical trials
Diet and gut flora studied together in 8 patients with methylmalonic acidemia in Ankara
At Ankara University, 8 patients with methylmalonic acidemia were followed step by step.
Peer-reviewed publicationMMA
Rare Diseases
News
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
RareBoost project in İzmir: 70 undiagnosed rare disease patients diagnosed
In the RareBoost project in İzmir, 70 patients were diagnosed in about 2.5 years.
News report
TürkiyeResearch and clinical trials
16 people with retinitis pigmentosa in Erzincan describe delayed diagnosis and struggles with access and bureaucracy
In Erzincan, face-to-face interviews were held with adults with retinitis pigmentosa.
Peer-reviewed publicationRetinitis (RP)
TürkiyeResearch and clinical trials
72 Hirschsprung operations in Konya: botulinum injection helped most children with recurrent bowel inflammation
In Konya, 72 Hirschsprung patients operated on between 2011–2023 were studied.
Peer-reviewed publicationHirschsprung
TürkiyeResearch and clinical trials
274 adult aplastic anemia patients from 16 centers studied in Türkiye: 5-year survival rate 72.6%
In Türkiye, the records of 274 adult patients at 16 centers were reviewed.
Peer-reviewed publicationAplastic anemia
TürkiyeResearch and clinical trials
Hematologic Rare Diseases Congress: AI may help with early diagnosis
The 9th Hematologic Rare Diseases Congress brought together about 300 scientists.
News report
TürkiyeResearch and clinical trials
10 years of Trisomy 18 and 13 data in Istanbul: some children lived longer
Istanbul's Zeynep Kamil Hospital retrospectively reviewed ten years of records.
Peer-reviewed publicationTrisomy 18
TürkiyeResearch and clinical trials
35 DiGeorge patients from two centers in Izmir: antibody and B cell problems are common
At two centers in Izmir, 35 patients were compared with 20 healthy children.
Peer-reviewed publicationDiGeorge (22q11)
TürkiyeResearch and clinical trials
Eye pigment linked to vision in albinism: a 50-patient study from Ankara
Eye doctors at Ankara University studied the eyes of 50 people with albinism.
Peer-reviewed publicationAlbinism (OCA)
TürkiyeResearch and clinical trials
Eye vessels and retina change in Alport syndrome: a 34-patient study from Ankara
Eye doctors at Başkent University studied the eyes of 34 patients with Alport syndrome.
Peer-reviewed publicationAlport
TürkiyeResearch and clinical trials
At Hacettepe, 3 children with the same SAMHD1 change showed very different symptoms
The SAMHD1 gene causes one type of Aicardi-Goutières syndrome.
Peer-reviewed publicationAicardi-Goutières
TürkiyeResearch and clinical trials
30 children with Pompe disease in Izmir: severe events were less common in those receiving enzyme therapy
Ege University reviewed the records of 30 children with Pompe disease.
Peer-reviewed publicationPompe
TürkiyeResearch and clinical trials
31 patients with Joubert syndrome in Istanbul: genetic cause found in 23 families, 13 new gene changes
Patients with Joubert syndrome were studied at Istanbul University-Cerrahpaşa.
Peer-reviewed publicationJoubert
TürkiyeResearch and clinical trials
48 Turner patients on growth hormone in Diyarbakır: those who started early reached a greater height
In Diyarbakır, 48 Turner patients who received growth hormone and reached their final height were studied.
Peer-reviewed publicationTurner
TürkiyeResearch and clinical trials
17 children with ARPKD in Istanbul: kidneys fail earlier in those with early symptoms
At Marmara University, 17 children diagnosed with ARPKD were studied.
Peer-reviewed publicationARPKD
TürkiyeResearch and clinical trials
9 centers in the Marmara region: stroke-like episodes studied in children with mitochondrial disease
In the Marmara Region, 9 pediatric metabolic centers studied children with mitochondrial disease.
Peer-reviewed publicationMELAS
TürkiyeResearch and clinical trials
39 children with very high cholesterol in Izmir: genetic testing distinguished two different diseases
In Izmir, 39 children with very high LDL cholesterol were studied.
Peer-reviewed publicationHoFH
TürkiyeResearch and clinical trials
6 patients with ichthyosis from Rize and Istanbul: the skin disease may also affect immunity
In Rize and Istanbul, 6 patients with ichthyosis due to the ALOX12B gene were studied.
Peer-reviewed publicationCongenital ichthyosis
TürkiyeResearch and clinical trials
24 children with myotonic dystrophy in Ankara: fatigue and learning difficulties are very common
At Ankara Bilkent City Hospital, 24 children with myotonic dystrophy type 1 were studied.
Peer-reviewed publicationMyotonic dystrophy
TürkiyeResearch and clinical trials
Türkiye's largest Bardet-Biedl series: a genetic cause found in all 25 patients
In Istanbul, 25 patients were tested with a multigene panel.
Peer-reviewed publicationBardet-Biedl