TürkiyeResearch and clinical trials
12 children with Marfan syndrome in Ordu: half had widening at the root of the main artery
The heart findings of children with Marfan syndrome were studied at Ordu University.
Peer-reviewed publicationMarfan
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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TürkiyeDiagnosis and screening
Hearing screening of newborns with biotinidase deficiency in Konya was the same as in healthy babies
Babies found to have biotinidase deficiency through newborn screening in Konya were studied.
Peer-reviewed publicationBiotinidase deficiency
TürkiyeDiagnosis and screening
In Wilson disease, a diagnostic delay of more than one year was linked to a worse course
A study from Kayseri City Hospital examined diagnostic delay in Wilson disease.
Peer-reviewed publicationWilson
TürkiyeResearch and clinical trials
4,914 pregnancies in women with systemic sclerosis studied across Türkiye: miscarriage risk was higher
Under the supervision of the Ministry of Health, pregnancy outcomes of women with systemic sclerosis across Türkiye were studied.
Peer-reviewed publicationSystemic sclerosis
TürkiyeResearch and clinical trials
53 patients with early fusion of skull bones in Istanbul: Apert syndrome takes a more severe course
A center in Istanbul studied syndromes in which the skull bones fuse early.
Peer-reviewed publicationApert
TürkiyeResearch and clinical trials
Inner ear structure differs in CHARGE syndrome: an 18-patient study from Hacettepe
Ear, nose, and throat doctors at Hacettepe University studied the inner ear of patients with CHARGE syndrome.
Peer-reviewed publicationCHARGE
TürkiyeResearch and clinical trials
69 xeroderma pigmentosum patients from 12 centers studied in Türkiye; 30 new gene changes found
In Türkiye, 12 centers jointly studied 69 patients from 52 families.
Peer-reviewed publicationXeroderma (XP)
TürkiyeDiagnosis and screening
In Istanbul, acute porphyria found in 5 of 104 patients with abdominal pain thought to have FMF
A total of 104 patients followed for suspected FMF, but whose genetic test did not confirm it, were screened with a urine test during abdominal pain.
Peer-reviewed publicationAcute porphyria (AIP)
TürkiyeDiagnosis and screening
9 patients with hereditary fructose intolerance in Ankara: avoiding sweets can mask the diagnosis
At Ankara Etlik City Hospital, 9 patients with hereditary fructose intolerance were studied.
Peer-reviewed publicationFructose intolerance
TürkiyeResearch and clinical trials
Five LAM patients from Çanakkale: shortness of breath and cough are the most common symptoms
Çanakkale Onsekiz Mart University reported five patients diagnosed with LAM over the past two years.
Peer-reviewed publicationLAM
TürkiyeResearch and clinical trials
Study of 69 children with Behçet's disease in Samsun: one in five had nervous system involvement
In Samsun, the records of 69 children diagnosed with Behçet's disease were reviewed.
Peer-reviewed publicationBehçet
TürkiyeResearch and clinical trials
One of the largest mevalonate kinase deficiency series published from Türkiye, with 107 children from 25 centers
In Türkiye, 107 children with MKD were studied at 25 pediatric rheumatology centers.
Peer-reviewed publicationMKD (hyper-IgD)
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
TürkiyeDiagnosis and screening
In biotinidase screening, where the sample is taken from the blood spot affects the result
A laboratory study in Ankara examined factors that affect the result of biotinidase screening.
Peer-reviewed publicationBiotinidase deficiency
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
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
TürkiyeDiagnosis and screening
21 ataxia-telangiectasia patients in İzmir and Siirt: diagnosis delayed by 21 months on average
A total of 21 patients from four pediatric neurology centers were studied.
Peer-reviewed publicationA-T
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)