TürkiyeDiagnosis and screening
In Istanbul, combined genetic tests confirmed 121 diagnoses among 135 people referred with suspected FSHD
At a center in Istanbul, 135 people were seen with suspected FSHD.
Peer-reviewed publicationFSHD
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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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TürkiyeDiagnosis and screening
Newborn SMA screening in Türkiye: death rate fell markedly in babies found early
The effect of newborn screening for spinal muscular atrophy (SMA) in Türkiye was examined in a national multicenter study.
Peer-reviewed publicationSMA
TürkiyeDiagnosis and screening
Broad genetic testing in inherited nerve disease: cause found in three quarters of 63 families in Istanbul
Koç University studied 67 people with suspected CMT.
Peer-reviewed publicationCMT
TürkiyeDiagnosis and screening
In Istanbul, heel-prick blood for CAH screening is taken later in migrant babies
In Sultanbeyli, Istanbul, the screening of 5,934 babies for CAH (congenital adrenal hyperplasia) over one year was reviewed.
Peer-reviewed publicationCAH
TürkiyeDiagnosis and screening
18 children with Dravet syndrome in Istanbul: when genetic diagnosis was delayed, some drugs increased seizures
At Bezmialem Vakıf University, 60 children underwent SCN1A gene testing.
Peer-reviewed publicationDravet syndrome
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
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
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
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
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
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
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
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
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
TürkiyeDiagnosis and screening
Fingertip blood test in 563 patients with bronchiectasis in Samsun: alpha-1 deficiency found in 16 people
In Samsun, 563 patients with bronchiectasis but without emphysema were screened.
Peer-reviewed publicationAlpha-1 deficiency
TürkiyeDiagnosis and screening
Gene screening in 17 babies with diaphragmatic hernia in Istanbul: nine new candidate genes stand out
In Istanbul, broad gene testing was performed in 17 babies with congenital diaphragmatic hernia.
Peer-reviewed publicationDiaphragmatic hernia
TürkiyeDiagnosis and screening
7 patients with Creutzfeldt-Jakob disease at Hacettepe: sleep problems may be an early sign
At Hacettepe University, the sleep recordings of 7 people with Creutzfeldt-Jakob disease were studied.
Peer-reviewed publicationCJD
TürkiyeDiagnosis and screening
Ege University: a simple scoring system can point to FCS where genetic testing is unavailable
Ege University applied a scoring chart to 38 patients with a confirmed genetic diagnosis of FCS.
Peer-reviewed publicationFCS