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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TürkiyeResearch and clinical trials
In Türkiye, 133 children from 28 centers were studied.
USAResearch and clinical trials
The STArT study, published in JAMA, examined arginine in sickle cell pain crises.
TürkiyeResearch and clinical trials
In Türkiye, 14 centers jointly studied children with Sotos syndrome and the similar Malan syndrome.
TürkiyeResearch and clinical trials
Gazi University studied the eyes of 27 children.
TürkiyeDiagnosis and screening
At a center in Istanbul, 135 people were seen with suspected FSHD.
TürkiyeResearch and clinical trials
Long-term records of children with X-linked agammaglobulinemia were reviewed at Fırat University in Elazığ.
USAResearch and clinical trials
In the USA, children with HLH (hemophagocytic lymphohistiocytosis) were given a treatment that includes ruxolitinib taken by mouth.
FranceResearch and clinical trials
In France, simvastatin was compared with placebo in children with Noonan syndrome.
TürkiyeDiagnosis and screening
The effect of newborn screening for spinal muscular atrophy (SMA) in Türkiye was examined in a national multicenter study.
GlobalResearch and clinical trials
A total of 91 patients with AQP4 antibodies took part in the study conducted in China.
TürkiyeResearch and clinical trials
At Istanbul Faculty of Medicine, 14 children were studied.
TürkiyeDiagnosis and screening
Koç University studied 67 people with suspected CMT.
EuropeResearch and clinical trials
A total of 58 patients from 34 centers in seven European countries were followed.
GlobalResearch and clinical trials
Once-weekly growth hormone was tested in girls with Turner syndrome.
TürkiyeDiagnosis and screening
In Sultanbeyli, Istanbul, the screening of 5,934 babies for CAH (congenital adrenal hyperplasia) over one year was reviewed.
USAResearch and clinical trials
Speech and language problems are common in galactosemia.
EuropeResearch and clinical trials
In Belgium, 30 adults with DM1 and 30 healthy people were followed for two years.
TürkiyeResearch and clinical trials
At a pediatric surgery center in Ankara, 91 patients with Hirschsprung disease were reviewed.
GlobalResearch and clinical trials
A total of 687 adults diagnosed with PAH took part in the study.
ChinaResearch and clinical trials
In China, 6 children with infantile-onset Pompe disease were given a single dose of gene therapy.