المؤلفون: Mohamed FE; Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, P.O. Box: 17666, Al Ain, United Arab Emirates., Al Sorkhy M; College of Pharmacy, Al Ain University of Science and Technology, Al Ain, United Arab Emirates., Ghattas MA; College of Pharmacy, Al Ain University of Science and Technology, Al Ain, United Arab Emirates., Al-Zaabi N; Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.; Department of Paediatrics, Tawam Hospital, Al Ain, United Arab Emirates., Al-Shamsi A; Department of Paediatrics, Tawam Hospital, Al Ain, United Arab Emirates., Almansoori TM; Department of Radiology, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates., Al-Gazali L; Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates., Al-Dirbashi OY; Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates., Al-Jasmi F; Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates. aljasmif@uaeu.ac.ae.; Department of Paediatrics, Tawam Hospital, Al Ain, United Arab Emirates. aljasmif@uaeu.ac.ae., Ali BR; Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, P.O. Box: 17666, Al Ain, United Arab Emirates. bassam.ali@uaeu.ac.ae.

المصدر: Journal of molecular neuroscience : MN [J Mol Neurosci] 2020 Jan; Vol. 70 (1), pp. 45-55. Date of Electronic Publication: 2019 Aug 29.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Humana Press Country of Publication: United States NLM ID: 9002991 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-1166 (Electronic) Linking ISSN: 08958696 NLM ISO Abbreviation: J Mol Neurosci Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense* , Phenotype*, Lysosomal Storage Diseases/*genetics , Neuroaxonal Dystrophies/*genetics , alpha-N-Acetylgalactosaminidase/*deficiency, Adult ; Catalytic Domain ; Cells, Cultured ; Child ; Female ; Humans ; Lysosomal Storage Diseases/pathology ; Male ; Neuroaxonal Dystrophies/pathology ; Pedigree ; Protein Binding ; alpha-N-Acetylgalactosaminidase/chemistry ; alpha-N-Acetylgalactosaminidase/genetics ; alpha-N-Acetylgalactosaminidase/metabolism

SCR Disease Name: Schindler Disease, Type I