Showing results (121-130 of 132) with videos related to
Sort By:
Pageof 14
Journal of Gastroenterology and Hepatology|January 21, 2004
Current therapeutic approaches in childhood chronic hepatitis B infection: a multicenter studyBunyamin Dikici, Funda Ozgenc, Ayhan Gazi Kalayci, et al.European Journal of Medical Genetics|March 22, 2021
Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patientsPelin Teke Kisa, Mehmet Gunduz, Sevil Dorum, et al.Journal of Clinical Lipidology|May 1, 2026
Cerebrotendinous xanthomatosis and pregnancy: A multicenter study of maternal and neonatal outcomes with a focus on chenodeoxycholic acid treatment during gestationTanyel Zubarioglu, Gül Yalçın-Çakmaklı, Yılmaz Yıldız, et al.Human Mutation|May 26, 2020
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsySarah H Elsea, Alexander Solyom, Kirt Martin, et al.Biochimica Et Biophysica Acta. Molecular Basis of Disease|December 5, 2016
Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapyShaalee Dworski, Ping Lu, Aneal Khan, et al.Journal of Inherited Metabolic Disease|January 19, 2026
Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American SurveySarah C Grünert, Mirjam Langeveld, Lisa Rudolph, et al.Molecular Genetics and Metabolism|May 21, 2024
Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individualsTanyel Zubarioglu, Ertuğrul Kıykım, Engin Köse, et al.Journal of Inherited Metabolic Disease|July 24, 2025
Long-Term Outcomes of Chenodeoxycholic Acid Therapy for Cerebrotendinous Xanthomatosis: A Nationwide Study on Prognostic Factors and Treatment ResponseTanyel Zubarioglu, Banu Kadıoğlu-Yılmaz, Engin Köse, et al.Brain : a Journal of Neurology|November 18, 2021
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseasesSemra Hiz Kurul, Yavuz Oktay, Ana Töpf, et al.The Turkish Journal of Gastroenterology : the Official Journal of Turkish Society of Gastroenterology|June 23, 2021
Familial Mediterranean Fever Mutation Analysis in Pediatric Patients With İnflammatory Bowel Disease: A Multicenter StudyNafiye Urgancı, Funda Ozgenc, Zarife Kuloğlu, et al.Pageof 14