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Three-Country Snapshot of Ornithine Transcarbamylase DeficiencyBerna Şeker Yılmaz, Paul Gissen, Julien Baruteau et al.|Life|2022Cited by 15
Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in TurkeyPelin Teke Kısa, Nur Arslan, Melis Köse et al.|Journal of Pediatric Endocrinology and Metabolism|2019Cited by 8
Long‐Term Outcomes of Chenodeoxycholic Acid Therapy for Cerebrotendinous Xanthomatosis: A Nationwide Study on Prognostic Factors and Treatment ResponseTanyel Zübarioğlu, Ayşe Çiğdem Aktuğlu Zeybek, Banu Kadıoğlu Yılmaz et al.|Journal of Inherited Metabolic Disease|2025Cited by 5
An unusual cause of cavitating leukoencephalopathy: ethylmalonic encephalopathyDilek Çavuşoğlu, Pınar Gençpınar, Nihal Olgaç Dündar et al.|Acta Neurologica Belgica|2018Cited by 4