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Clinical Features of Families with a Novel Pathogenic Mutation in Sepiapterin Reductase.

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第一作者： Feda E,Mohamed

第一单位： Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain 15551, United Arab Emirates.;ASPIRE Precision Medicine Research Institute Abu Dhabi, United Arab Emirates University, Abu Dhabi 15551, United Arab Emirates.

作者： Feda E,Mohamed ^[1] ; Lara,Alzyoud ^[2] ; Mohammad A,Ghattas ^[2] ; Mohammed,Tabouni ^[1] ; André,Fienemann ^[3] ; Joanne,Trinh ^[3] ; Ibrahim,Baydoun ^[4] ; Praseetha,Kizhakkedath ^[4] ; Hiba,Alblooshi ^[4] ; Qudsia,Shaukat ^[5] ; Rim,Amouri ^[6] ; Matthew J,Farrer ^[7] ; Samia Ben,Sassi ^[6] ; Fatma,Al-Jasmi ^[8]

作者单位： Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain 15551, United Arab Emirates.;ASPIRE Precision Medicine Research Institute Abu Dhabi, United Arab Emirates University, Abu Dhabi 15551, United Arab Emirates. ^[1] College of Pharmacy, Al Ain University, Abu Dhabi 64141, United Arab Emirates.;AAU Health and Biomedical Research Center, Al Ain University, Abu Dhabi 64141, United Arab Emirates. ^[2] Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany. ^[3] Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain 15551, United Arab Emirates. ^[4] Department of Pediatrics, Tawam Hospital, Al Ain 15258, United Arab Emirates. ^[5] Neurology's Department, Mongi Ben Hmida National Institute of Neurology, Tunis 1007, Tunisia. ^[6] Department of Neurology, University of Florida, Gainesville, FL 32611, USA. ^[7] Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain 15551, United Arab Emirates.;ASPIRE Precision Medicine Research Institute Abu Dhabi, United Arab Emirates University, Abu Dhabi 15551, United Arab Emirates.;Department of Pediatrics, Tawam Hospital, Al Ain 15258, United Arab Emirates. ^[8]

关键词 ataxia cognitive delay developmental delay neurotransmitter disorders parkinsonism