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Podgląd okładki
Tytuł :
Prevalence and outcomes of Guillain-Barré syndrome among pediatrics in Saudi Arabia: a 10-year retrospective study
Autorzy :
Asiri S
Altwaijri WA
Ba-Armah D
Al Rumayyan A
Alrifai MT
Salam M
Almutairi AF
Pokaż więcej
Temat :
Guillain-Barré Syndrome
factors
prognosis
outcomes
paralysis
Saudi Arabia
Neurosciences. Biological psychiatry. Neuropsychiatry
RC321-571
Neurology. Diseases of the nervous system
RC346-429
Źródło :
Neuropsychiatric Disease and Treatment, Vol Volume 15, Pp 627-635 (2019)
Opis pliku :
electronic resource
Relacje :
https://www.dovepress.com/prevalence-and-outcomes-of-guillain-barre-syndrome-among-pediatriatric-peer-reviewed-article-NDT; https://doaj.org/toc/1178-2021
Dostęp URL :
https://doaj.org/article/656be47a76fb432ebb98ba6fa2d1956d
Czasopismo naukowe
Szczegóły
Podgląd okładki
Tytuł :
EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.
Autorzy :
Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.
Ballow M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.
Asiri A; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.
Alyafee Y; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.
Al Tuwaijri A; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.
Alhamoudi KM; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.
Aloraini T; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Abdelhakim M; Computer, Electrical and Mathematical Sciences & Engineering Division, Computational Bioscience Research Center, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia.
Althagafi AT; Computer, Electrical and Mathematical Sciences & Engineering Division, Computational Bioscience Research Center, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia.; College of Computers and Information Technology, Taif University, Taif, Saudi Arabia.
Kafkas S; Computer, Electrical and Mathematical Sciences & Engineering Division, Computational Bioscience Research Center, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia.
Alsubaie L; Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Alrifai MT; Department of Pediatrics, Division of Neurology, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.
Hoehndorf R; Computer, Electrical and Mathematical Sciences & Engineering Division, Computational Bioscience Research Center, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia.
Alfares A; Department of Pediatrics, College of Medicine, Qassim University, Saudi Arabia.
Alfadhel M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
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Źródło :
Clinical genetics [Clin Genet] 2020 Dec; Vol. 98 (6), pp. 555-561. Date of Electronic Publication: 2020 Sep 15.
Typ publikacji :
Journal Article
Czasopismo naukowe
Szczegóły
Podgląd okładki
Tytuł :
Genomic testing and counseling: The contribution of next-generation sequencing to epilepsy genetics.
Autorzy :
Alsubaie L; Department of Pediatrics, Division of Genetics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Aloraini T; Department of Lab Medicine, Division of Translational Pathology, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Amoudi M; Department of Lab Medicine, Division of Translational Pathology, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Swaid A; Department of Pediatrics, Division of Genetics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Eyiad W; Department of Pediatrics, Division of Genetics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Al Mutairi F; Department of Pediatrics, Division of Genetics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Ababneh F; Department of Pediatrics, Division of Genetics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Alrifai MT; Department of Pediatrics, Division of Neurology, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Baarmah D; Department of Pediatrics, Division of Neurology, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Altwaijri W; Department of Pediatrics, Division of Neurology, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Alotaibi N; Department of Medicine, Division of Neurology, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Harthi A; Department of Medicine, Division of Neurology, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Rumayyan A; Department of Pediatrics, Division of Neurology, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Alanazi A; Department of Medicine, Division of Neurology, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Qrimli M; Department of Medicine, Division of Neurology, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Alfadhel M; Department of Pediatrics, Division of Genetics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Alfares A; Department of Lab Medicine, Division of Translational Pathology, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; Department of Pediatrics, College of Medicine, Qassim University, Buraidah, Saudi Arabia.
Pokaż więcej
Źródło :
Annals of human genetics [Ann Hum Genet] 2020 Nov; Vol. 84 (6), pp. 431-436. Date of Electronic Publication: 2020 Jun 13.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Czasopismo naukowe
Szczegóły
Podgląd okładki
Tytuł :
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.
Autorzy :
Ahmed A; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Wang M; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Bergant G; Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia. .
Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Zhao R; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Alfadhel M; Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Nashabat M; Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
AlRifai MT; Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Eyaid W; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia.; Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre (KAIMRC), King Saud Bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Alswaid A; Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Beetz C; Centogene AG, Am Strande 7, 18057, Rostock, Germany.
Qin Y; Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China.
Zhu T; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Tian Q; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Xia L; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Wu H; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Shen L; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Dong S; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Yang X; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Liu C; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Ma L; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Zhang Q; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Khan R; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Shah AA; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Guo J; Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China.; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, 410008, Hunan, China.
Tang B; Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China.; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, 410008, Hunan, China.
Leonardis L; Institute of Clinical Neurophysiology, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Department of Neurology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Writzl K; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Peterlin B; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Guo H; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Hunan Key Laboratory of Animal Models for Human Diseases, Changsha, Hunan, China.
Malik S; Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan. .
Xia K; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China. .; CAS Center for Excellence in Brain Science and Intelligences Technology (CEBSIT), Chinese Academy of Sciences, Shanghai, China. .; Hunan Key Laboratory of Molecular Precisional Medicine, Central South University, Changsha, China. .
Hu Z; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China. .; Hunan Key Laboratory of Animal Models for Human Diseases, Changsha, Hunan, China. .
Pokaż więcej
Źródło :
Human genetics [Hum Genet] 2020 Oct 13. Date of Electronic Publication: 2020 Oct 13.
Typ publikacji :
Journal Article
Czasopismo naukowe
Szczegóły
Podgląd okładki
Tytuł :
Acute Necrotizing Encephalopathy of Childhood: A Multicenter Experience in Saudi Arabia.
Autorzy :
Bashiri FA; Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Al Johani S; Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Hamad MH; Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Kentab AY; Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Alwadei AH; Pediatric Neurology Department, National Neuroscience Institute, King Fahd Medical City, Riyadh, Saudi Arabia.
Hundallah K; Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Hasan HH; Neuroradiology Division, Department of Radiology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Alshuaibi W; Medical Genetics Division, Department of Pediatrics, King Khalid University Hospital, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Jad L; Pediatric Neurology Department, National Neuroscience Institute, King Fahd Medical City, Riyadh, Saudi Arabia.
Alrifai MT; Division of Neurology, Pediatric Department, King Abdullah Children Hospital, King Abdulaziz Medical City, Ministry of National Guard, Riyadh, Saudi Arabia.
Hudairi A; Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Al Sheikh R; Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Alenizi A; Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Alharthi NA; Pediatric Department, King Abdullah bin Abdulaziz University Hospital, College of Medicine, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia.
Abdelmagid TA; Department of Pediatrics, Armed Forces Hospital Southern Region, Khamis Mushayt, Saudi Arabia.
Ba-Armah D; Division of Neurology, Pediatric Department, King Abdullah Children Hospital, King Abdulaziz Medical City, Ministry of National Guard, Riyadh, Saudi Arabia.
Salih MA; Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Tabarki B; Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Pokaż więcej
Źródło :
Frontiers in pediatrics [Front Pediatr] 2020 Oct 09; Vol. 8, pp. 526. Date of Electronic Publication: 2020 Oct 09 (Print Publication: 2020).
Typ publikacji :
Journal Article
Czasopismo naukowe
Szczegóły
Podgląd okładki
Tytuł :
The comorbidity of headaches in pediatric epilepsy patients: How common and what types?
Autorzy :
Al-Gethami H; Neuro-science Center, King Fahd Medical City, Riyadh, Kingdom of Saudi Arabia.
Alrifai MT
AlRumayyan A
AlTuwaijri W
Baarmah D
Pokaż więcej
Źródło :
Neurosciences (Riyadh, Saudi Arabia) [Neurosciences (Riyadh)] 2019 Oct; Vol. 24 (4), pp. 284-289.
Typ publikacji :
Journal Article
MeSH Terms :
Epilepsy/*epidemiology
Headache/*epidemiology
Child ; Comorbidity ; Female ; Humans ; Male ; Prevalence ; Saudi Arabia
Czasopismo naukowe
Szczegóły
Podgląd okładki
Tytuł :
Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening.
Autorzy :
Alfadhel M; Division of Genetics, Department of Pediatrics, King Abdullah specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Almuzzaini B; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Alsaif S; King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; Department of Neonatology, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
AlMohaimeed SA; Pediatric Intensive Care Unit, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Almashary MA; Pediatric Intensive Care Unit, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Alharbi W; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Alayyar L; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Alasiri A; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Ballow M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
AlAbdulrahman A; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Alaujan M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Nashabat M; Division of Genetics, Department of Pediatrics, King Abdullah specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Al-Odaib A; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; King Salman Center for Disability Research, Riyadh, Saudi Arabia.
Altwaijri W; King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; Division of Pediatric Neurology, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Al-Rumayyan A; King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Alrifai MT; King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Alfares A; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; Department of Pediatrics, Qassim University, Almulyda, Buraydah, Saudi Arabia.
AlBalwi M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Tabarki B; Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Pokaż więcej
Źródło :
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2019 Oct; Vol. 6 (10), pp. 2097-2103. Date of Electronic Publication: 2019 Sep 26.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Testing*
Neonatal Screening*
Basal Ganglia Diseases/*diagnosis
Basal Ganglia Diseases/*epidemiology
Membrane Transport Proteins/*genetics
Basal Ganglia Diseases/genetics ; Cohort Studies ; Female ; Heterozygote ; Humans ; Infant, Newborn ; Male ; Pilot Projects ; Saudi Arabia/epidemiology ; Sequence Analysis, DNA
SCR Disease Name :
Basal ganglia disease, biotin-responsive
Czasopismo naukowe
Szczegóły Pełny tekst Pełny tekst
Podgląd okładki
Tytuł :
Clinical Presentation and outcome of acute disseminated encephalomyelitis in Saudi Arabia. Tertiary Center Experience.
Autorzy :
Aldamkh BA; College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Kingdom of Saudi Arabia. E-mail: .
Alamer AF
Altuwaijri MM
Alrumayyan MA
Alhaqbani AH
Alharthi NA
Aldamkh SA
Aldrees AS
Alrifai MT
Altuwaijri W
Alrumayyan A
Pokaż więcej
Źródło :
Neurosciences (Riyadh, Saudi Arabia) [Neurosciences (Riyadh)] 2019 Apr; Vol. 24 (2), pp. 89-94.
Typ publikacji :
Journal Article
MeSH Terms :
Encephalomyelitis, Acute Disseminated/*epidemiology
Adolescent ; Brain/diagnostic imaging ; Brain/pathology ; Child ; Child, Preschool ; Encephalomyelitis, Acute Disseminated/diagnosis ; Encephalomyelitis, Acute Disseminated/pathology ; Female ; Humans ; Infant ; Male ; Retrospective Studies ; Saudi Arabia/epidemiology ; Seasons ; Tertiary Care Centers/statistics & numerical data ; Tertiary Healthcare/statistics & numerical data
Czasopismo naukowe
Szczegóły
Podgląd okładki
Tytuł :
Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients.
Autorzy :
AlGhamdi A; 1 King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; 2 Genetics Division, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.
Alrifai MT; 1 King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; 3 Neurology Division, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.
Al Hammad AI; 1 King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; 4 Medical Imaging Department, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.
Al Mutairi F; 1 King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; 2 Genetics Division, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.
Alswaid A; 1 King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; 2 Genetics Division, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.
Eyaid W; 1 King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; 2 Genetics Division, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.
Alfadhel M; 1 King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; 2 Genetics Division, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.
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Źródło :
Journal of child neurology [J Child Neurol] 2018 Oct; Vol. 33 (11), pp. 713-717. Date of Electronic Publication: 2018 Jul 17.
Typ publikacji :
Journal Article
MeSH Terms :
Epilepsy/*etiology
Propionic Acidemia/*complications
Adolescent ; Brain/diagnostic imaging ; Brain/physiopathology ; Child ; Child, Preschool ; Electroencephalography ; Epilepsy/diagnostic imaging ; Epilepsy/genetics ; Female ; Genotype ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Methylmalonyl-CoA Decarboxylase/genetics ; Mutation, Missense/genetics ; Neurologic Examination ; Propionic Acidemia/genetics ; Retrospective Studies ; Saudi Arabia
Czasopismo naukowe
Szczegóły
Podgląd okładki
Tytuł :
Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.
Autorzy :
Al-Rakan MA; Deapartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, Riyadh, Saudi Arabia.
Abothnain MD; Deapartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, Riyadh, Saudi Arabia.
Alrifai MT; Division of Neurology, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Centre, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.
Alfadhel M; Division of Genetics, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Centre, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), PO Box 22490, Riyadh, 11426, Saudi Arabia. .
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Źródło :
BMC ophthalmology [BMC Ophthalmol] 2018 Jun 22; Vol. 18 (1), pp. 147. Date of Electronic Publication: 2018 Jun 22.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Mutation, Missense*
DNA/*genetics
Hernia, Hiatal/*genetics
Microcephaly/*genetics
Nephrosis/*genetics
Proteins/*genetics
Retinal Diseases/*etiology
DNA Mutational Analysis ; Electroretinography ; Female ; Follow-Up Studies ; Hernia, Hiatal/complications ; Hernia, Hiatal/diagnosis ; Humans ; Infant ; Microcephaly/complications ; Microcephaly/diagnosis ; Nephrosis/complications ; Nephrosis/diagnosis ; Phenotype ; Proteins/metabolism ; Retinal Diseases/diagnosis ; Retinal Diseases/metabolism
SCR Disease Name :
Galloway Mowat syndrome
Czasopismo naukowe
Szczegóły
Podgląd okładki
Tytuł :
Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.
Autorzy :
Alsahli S; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Alrifai MT; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), Division of Neurology, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Al Tala S; Division of Genetics, Department of Pediatrics, Armed Forces Hospital, Khamis Mushayt, Saudi Arabia.
Mutairi FA; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Alfadhel M; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
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Źródło :
Journal of central nervous system disease [J Cent Nerv Syst Dis] 2018 Feb 28; Vol. 10, pp. 1179573518759682. Date of Electronic Publication: 2018 Feb 28 (Print Publication: 2018).
Typ publikacji :
Journal Article
Czasopismo naukowe
Szczegóły
Podgląd okładki
Tytuł :
Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.
Autorzy :
Alfadhel M; Genetics Division, Department of Pediatrics, King Saud bin Abdulaziz University for Health Science, King Abdullah International Medical Research Centre, King Abdulaziz Medical City, Riyadh, Saudi Arabia. Electronic address: .
Nashabat M; Genetics Division, Department of Pediatrics, King Saud bin Abdulaziz University for Health Science, King Abdullah International Medical Research Centre, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Alrifai MT; Neurology Division, Department of Pediatrics, King Saud bin Abdulaziz University for Health Science, King Abdullah International Medical Research Centre, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Alshaalan H; Medical Imaging Department, King Abdullah Specialized Children Hospital, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.
Al Mutairi F; Genetics Division, Department of Pediatrics, King Saud bin Abdulaziz University for Health Science, King Abdullah International Medical Research Centre, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Al-Shahrani SA; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Alfaisal University, Riyadh, Saudi Arabia.
Plecko B; Division of Child Neurology, University Children's Hospital, Zurich, Switzerland.
Almass R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Alsagob M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Almutairi FB; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Al-Rumayyan A; Neurology Division, Department of Pediatrics, King Saud bin Abdulaziz University for Health Science, King Abdullah International Medical Research Centre, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Al-Twaijri W; Neurology Division, Department of Pediatrics, King Saud bin Abdulaziz University for Health Science, King Abdullah International Medical Research Centre, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Al-Owain M; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Alfaisal University, Riyadh, Saudi Arabia.
Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle Upon Tyne, NE2 4HH, UK.
Kaya N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Electronic address: .
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Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2018 Jan; Vol. 22 (1), pp. 46-55. Date of Electronic Publication: 2017 Oct 16.
Typ publikacji :
Journal Article
MeSH Terms :
Brain/*pathology
Iron-Sulfur Proteins/*genetics
Mitochondrial Diseases/*pathology
Spinal Cord/*pathology
White Matter/*pathology
Female ; Humans ; Infant ; Leukodystrophy, Metachromatic/genetics ; Leukodystrophy, Metachromatic/pathology ; Magnetic Resonance Imaging ; Male ; Mitochondrial Diseases/genetics ; Phenotype ; Retrospective Studies
SCR Disease Name :
Multiple Mitochondrial Dysfunctions Syndrome
Czasopismo naukowe
Szczegóły
Podgląd okładki
Tytuł :
Retrospective review of pediatric status epilepticus in 116 Saudi patients: predictors of outcome.
Autorzy :
Hommady RH
Alrifai MT; Dr. Muhammad Talal Alrifai, Department of Pediatrics Neurology,, King Abdulaziz Medical City,, King Abdullah Specialized Children's Hospital,, Riyadh, Saudi Arabia, T: +966506404163, , ORCID ID: https://orcid.org/0000-0002-5203-438X.
Mubayrik OK
Alayed RS
Alsemari MA
Arumayyan A
Altuwaijri W
Baarmah D
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Źródło :
Annals of Saudi medicine [Ann Saudi Med] 2017 Nov-Dec; Vol. 37 (6), pp. 455-460.
Typ publikacji :
Journal Article
MeSH Terms :
Developmental Disabilities/*epidemiology
Epilepsy/*epidemiology
Status Epilepticus/*epidemiology
Child ; Child, Preschool ; Electroencephalography ; Female ; Glasgow Outcome Scale ; Humans ; Infant ; Male ; Multivariate Analysis ; Retrospective Studies ; Saudi Arabia/epidemiology ; Status Epilepticus/mortality ; Status Epilepticus/physiopathology ; Tertiary Care Centers ; Time Factors
Czasopismo naukowe
Szczegóły
Podgląd okładki
Tytuł :
X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report.
Autorzy :
Malik A; King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Science, Riyadh, Saudi Arabia.; King AbdulAziz Medical City, Riyadh, Saudi Arabia.
Amer AB; King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Science, Riyadh, Saudi Arabia.; King AbdulAziz Medical City, Riyadh, Saudi Arabia.
Salama M; King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Science, Riyadh, Saudi Arabia.; King AbdulAziz Medical City, Riyadh, Saudi Arabia.
Haddad B; King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Science, Riyadh, Saudi Arabia.; King AbdulAziz Medical City, Riyadh, Saudi Arabia.
Alrifai MT; King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Science, Riyadh, Saudi Arabia.; King AbdulAziz Medical City, Riyadh, Saudi Arabia.
Balwi MA; King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Science, Riyadh, Saudi Arabia.; King AbdulAziz Medical City, Riyadh, Saudi Arabia.
Davies W; Medical Research Council Centre for Neuropsychiatric Genetics and Genomics and Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK. .; School of Psychology, Cardiff University, Cardiff, UK. .; Neuroscience and Mental Health Research Institute, Cardiff University, Cardiff, UK. .; MRC Centre for Neuropsychiatric Genetics and Genomics, Hadyn Ellis Building, Maindy Road, Cardiff, CF24 4HQ, UK. .
Eyaid W; King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia. .; King Saud Bin Abdulaziz University for Health Science, Riyadh, Saudi Arabia. .; King AbdulAziz Medical City, Riyadh, Saudi Arabia. .; Department of Pediatrics MC 1510, King AbdulAziz Medical City, King Fahad National Guard Hospital, P.O Box 22490, Riyadh, 11426, Saudi Arabia. .
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Źródło :
Journal of medical case reports [J Med Case Rep] 2017 Sep 22; Vol. 11 (1), pp. 267. Date of Electronic Publication: 2017 Sep 22.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Ichthyosis, X-Linked/*genetics
Psychotic Disorders/*genetics
Steryl-Sulfatase/*genetics
Attention Deficit Disorder with Hyperactivity/complications ; Attention Deficit Disorder with Hyperactivity/genetics ; Attention Deficit Disorder with Hyperactivity/psychology ; Autism Spectrum Disorder/complications ; Autism Spectrum Disorder/genetics ; Child ; Epilepsy/complications ; Epilepsy/genetics ; Gene Deletion ; Genetic Predisposition to Disease ; Humans ; Ichthyosis, X-Linked/complications ; Ichthyosis, X-Linked/psychology ; Intellectual Disability/complications ; Intellectual Disability/genetics ; Male ; Phenotype ; Problem Behavior ; Psychotic Disorders/complications ; Psychotic Disorders/psychology ; Saudi Arabia
Czasopismo naukowe
Szczegóły Pełny tekst
Podgląd okładki
Tytuł :
Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans.
Autorzy :
Alfadhel M; Division of Genetics, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (NGHA), King Abdulaziz Medical City, PO Box 22490, Riyadh, 11426, Saudi Arabia. .
Nashabat M; Division of Genetics, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (NGHA), King Abdulaziz Medical City, PO Box 22490, Riyadh, 11426, Saudi Arabia.
Qahtani HA; Medical Imaging Department, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (NGHA), King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Alfares A; Department of Pediatrics, College of Medicine, Qassim University, Almulyda, Saudi Arabia.
Mutairi FA; Division of Genetics, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (NGHA), King Abdulaziz Medical City, PO Box 22490, Riyadh, 11426, Saudi Arabia.
Shaalan HA; Medical Imaging Department, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (NGHA), King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Douglas GV; GeneDx, Gaithersburg, MD, 20877, USA.
Wierenga K; Department of Pediatrics, Section of Genetics, The University of Oklahoma Health Sciences Center (OUHSC), Oklahoma City, OK, USA.
Juusola J; GeneDx, Gaithersburg, MD, 20877, USA.
Alrifai MT; Neurology Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (NGHA), King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Arold ST; Division of Biological and Environmental Sciences and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia.
Alkuraya F; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Ali QA; GeneDx, Gaithersburg, MD, 20877, USA.
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Źródło :
Human genetics [Hum Genet] 2016 Nov; Vol. 135 (11), pp. 1263-1268. Date of Electronic Publication: 2016 Aug 01.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Base Sequence/*genetics
Glycine Plasma Membrane Transport Proteins/*genetics
Hyperglycinemia, Nonketotic/*genetics
Mutation/*genetics
Amino Acid Oxidoreductases/genetics ; Animals ; Carrier Proteins/genetics ; Exome/genetics ; Female ; Glycine/metabolism ; Homozygote ; Humans ; Hyperglycinemia, Nonketotic/pathology ; Infant ; Mice ; Mice, Knockout ; Multienzyme Complexes/genetics ; Phenotype ; Transferases/genetics
Czasopismo naukowe
Szczegóły
Podgląd okładki
Tytuł :
Worsening of Seizures After Asparagine Supplementation in a Child with Asparagine Synthetase Deficiency.
Autorzy :
Alrifai MT; Division of Neurology, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia; King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia. Electronic address: .
Alfadhel M; King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia; Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia. Electronic address: .
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Źródło :
Pediatric neurology [Pediatr Neurol] 2016 May; Vol. 58, pp. 98-100.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Asparagine/*adverse effects
Aspartate-Ammonia Ligase/*deficiency
Central Nervous System Agents/*adverse effects
Seizures/*physiopathology
Asparagine/therapeutic use ; Aspartate-Ammonia Ligase/genetics ; Central Nervous System Agents/therapeutic use ; Child, Preschool ; Humans ; Male ; Seizures/genetics ; Severity of Illness Index ; Treatment Failure
Czasopismo naukowe
Szczegóły
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