المؤلفون: Kumar G; Department of Paediatrics, Sheikh Khalifa Medical City, P O Box 51900, Abu Dhabi, United Arab Emirates. kumargurinder@gmail.com., Nair R; Department of Paediatrics, Sheikh Khalifa Medical City, P O Box 51900, Abu Dhabi, United Arab Emirates., Hendawy BS; Department of Pathology, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates., AlShkeili OA; Department of Paediatrics, Sheikh Khalifa Medical City, P O Box 51900, Abu Dhabi, United Arab Emirates., Alabdouli AA; Department of Paediatrics, Sheikh Khalifa Medical City, P O Box 51900, Abu Dhabi, United Arab Emirates., Ali AMA; Department of Paediatrics, Sheikh Khalifa Medical City, P O Box 51900, Abu Dhabi, United Arab Emirates., AlTenaiji AMJ; Department of Paediatrics, Sheikh Khalifa Medical City, P O Box 51900, Abu Dhabi, United Arab Emirates.

المصدر: CEN case reports [CEN Case Rep] 2019 Aug; Vol. 8 (3), pp. 173-177. Date of Electronic Publication: 2019 Feb 12.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Springer Japan Country of Publication: Japan NLM ID: 101636244 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2192-4449 (Electronic) Linking ISSN: 21924449 NLM ISO Abbreviation: CEN Case Rep Subsets: MEDLINE

مواضيع طبية MeSH: Cardiomyopathies/*complications , Kidney Diseases/*etiology , Kidney Glomerulus/*pathology , Lipid Metabolism, Inborn Errors/*complications , Mitochondrial Myopathies/*complications , Mitochondrial Trifunctional Protein/*deficiency , Nervous System Diseases/*complications , Rhabdomyolysis/*complications, Child, Preschool ; Humans ; Kidney Diseases/pathology ; Male

SCR Disease Name: Trifunctional Protein Deficiency With Myopathy And Neuropathy