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Molecular Genetics and Metabolism|November 21, 2014
Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: characterization of a founder mutation by use of recombinant CPS1 from insect cells expressionLiyan Hu, Carmen Diez-Fernandez, Véronique Rüfenacht, et al.Metabolic Brain Disease|June 22, 2026
Treatment strategies, radiological recovery, and neurodevelopmental outcomes in paediatric Maple Syrup Urine Disease: a 20-year single-centre experience from TürkiyeKemal Uylaş, Havva Yazıcı, Yasemin Atik Altınok, et al.Pediatric Blood & Cancer|April 13, 2023
Hematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndromeGülcihan Ozek, Serap Aksoylar, Sema Kalkan Uçar, et al.Diagnostics (Basel, Switzerland)|November 13, 2025
Genotype-Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective StudyHavva Yazıcı, Esra Kara, Fatma Derya Bulut, et al.Molecular Genetics and Metabolism Reports|November 2, 2020
<i>SURF1</i> related Leigh syndrome: Clinical and molecular findings of 16 patients from TurkeyMelis Kose, Ebru Canda, Mehtap Kagnici, et al.Molecular Genetics and Metabolism|July 11, 2017
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiencySarah Catharina Grünert, Robert Niklas Schmitt, Sonja Marina Schlatter, et al.Molecular Genetics and Metabolism|June 7, 2017
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patientsSarah Catharina Grünert, Sonja Marina Schlatter, Robert Niklas Schmitt, et al.Journal of Medical Genetics|February 25, 2016
Clinical course of sly syndrome (mucopolysaccharidosis type VII)Adriana M Montaño, Ngu Lock-Hock, Robert D Steiner, et al.Molecular Genetics and Metabolism|August 2, 2016
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 familiesJörn Oliver Sass, Corinne Gemperle-Britschgi, Maja Tarailo-Graovac, et al.Turkish Journal of Medical Sciences|July 21, 2025
Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in TürkiyeEkin Özsaydi Aktaşoğlu, Aslı Inci, Rıdvan Murat Öktem, et al.Pageof 4