Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Amal Y Kentab"'
Autor:
Amal Y. Kentab, Yara Alsalloum, Mai Labani, Abrar Hudairi, Muddathir H. Hamad, Dima Z. Jamjoom, Ali H. Alwadei, Reem M. Alhammad, Fahad A. Bashiri
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
BackgroundBrown-Vialetto-Van Laere (BVVL) syndrome is an extremely rare autosomal recessive progressive motoneuron disease that is caused by a defect in the riboflavin transporter genes SLC52A2 and SLC52A3. BVVL syndrome has a variable age of present
Externí odkaz:
https://doaj.org/article/64720140ac684806ac89d179edf0e67f
Autor:
Mustafa A Salih, Emeline Mundwiller, Arif O Khan, Abdulmajeed AlDrees, Salah A Elmalik, Hamdy H Hassan, Mohammed Al-Owain, Hisham M S Alkhalidi, Istvan Katona, Mohammad M Kabiraj, Roman Chrast, Amal Y Kentab, Hamad Alzaidan, Richard J Rodenburg, Thomas M Bosley, Joachim Weis, Michel Koenig, Giovanni Stevanin, Hamid Azzedine
Publikováno v:
PLoS ONE, Vol 8, Iss 10, p e76831 (2013)
Mutations in PLA2G6 gene have variable phenotypic outcome including infantile neuroaxonal dystrophy, atypical neuroaxonal dystrophy, idiopathic neurodegeneration with brain iron accumulation and Karak syndrome. The cause of this phenotypic variation
Externí odkaz:
https://doaj.org/article/97df3926904048ffaa54612dd30d667d
Autor:
Khalid A. Alhasan, Walaa Alshuaibi, Muddathir H. Hamad, Suha Salim, Dima Z. Jamjoom, Aqeela H. Alhashim, Malak Ali AlGhamdi, Amal Y. Kentab, Fahad A. Bashiri
Publikováno v:
Children, Vol 9, Iss 9, p 1335 (2022)
Importance: Hypermanganesemia with dystonia type 2 is a rare autosomal recessive neurodegenerative disorder characterized by the loss of previously acquired milestones, dystonia, parkinsonian features, a high serum manganese level, and characteristic
Externí odkaz:
https://doaj.org/article/d7de030f5995434a943fbef7d4dc8554
Publikováno v:
International Journal of Pediatrics and Adolescent Medicine. 9:131-135
To evaluate the electro-clinical manifestations and outcomes of children with absence epilepsy at a tertiary center in Saudi Arabia.This retrospective study reviewed the medical and EEG records of patients who were diagnosed to have CAE as per the In
Autor:
Anas M. Alazami, Nisha Patel, Hanan E. Shamseldin, Shamsa Anazi, Mohammed S. Al-Dosari, Fatema Alzahrani, Hadia Hijazi, Muneera Alshammari, Mohammed A. Aldahmesh, Mustafa A. Salih, Eissa Faqeih, Amal Alhashem, Fahad A. Bashiri, Mohammed Al-Owain, Amal Y. Kentab, Sameera Sogaty, Saeed Al Tala, Mohamad-Hani Temsah, Maha Tulbah, Rasha F. Aljelaify, Saad A. Alshahwan, Mohammed Zain Seidahmed, Adnan A. Alhadid, Hesham Aldhalaan, Fatema AlQallaf, Wesam Kurdi, Majid Alfadhel, Zainab Babay, Mohammad Alsogheer, Namik Kaya, Zuhair N. Al-Hassnan, Ghada M.H. Abdel-Salam, Nouriya Al-Sannaa, Fuad Al Mutairi, Heba Y. El Khashab, Saeed Bohlega, Xiaofei Jia, Henry C. Nguyen, Rakad Hammami, Nouran Adly, Jawahir Y. Mohamed, Firdous Abdulwahab, Niema Ibrahim, Ewa A. Naim, Banan Al-Younes, Brian F. Meyer, Mais Hashem, Ranad Shaheen, Yong Xiong, Mohamed Abouelhoda, Abdulrahman A. Aldeeri, Dorota M. Monies, Fowzan S. Alkuraya
Publikováno v:
Cell Reports, Vol 10, Iss 2, Pp 148-161 (2015)
Our knowledge of disease genes in neurological disorders is incomplete. With the aim of closing this gap, we performed whole-exome sequencing on 143 multiplex consanguineous families in whom known disease genes had been excluded by autozygosity mappi
Externí odkaz:
https://doaj.org/article/50640b009bf24893bb6eadc42e852726
Pattern and etiology of early childhood epilepsy: An Experience at a tertiary care University Center
Publikováno v:
Neurosciences (Riyadh, Saudi Arabia). 27(4)
To investigate seizure characteristics, types, and define the etiology of epilepsy in children aged ≤2 years using the 2017 ILAE classification.A retrospective chart review was conducted at King Khalid University Hospital, King Saud University Medi
Autor:
Amal Y. Kentab
Publikováno v:
Sudanese Journal of Paediatrics. :149-155
Paediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS) is a rare recently recognised clinical syndrome with common presentations that include tics, Tourette’s-like syndrome or obsessive-compulsive disorde
Autor:
Mustafa A. Salih, Muddathir H. Hamad, Amal Y. Kentab, Fahad A. Bashiri, Nawaf Rahi Alshammari, Mujtaba A Aljumah, Matar A. Al-Sehemi
Publikováno v:
Neurosciences
Objectives: To assess the neurodevelopmental and epilepsy outcomes in children with infantile spasms (IS). Methods: A retrospective chart review of all patients with infantile spasms admitted to King Khalid University Hospital (KKUH), Riyadh, Saudi A
Autor:
Ali H Alwadei, Abrar Hudairi, Tayseer A Abdelmagid, Fahad A. Bashiri, Brahim Tabarki, Nawaf A. Alharthi, Asma'a Alenizi, Muhammad Talal Alrifai, Sultan Al Johani, Muddathir H. Hamad, Duaa Ba-Armah, Mustafa A. Salih, Walaa Alshuaibi, Rana Al Sheikh, Lamyaa Jad, Hamdi H Hasan, Amal Y. Kentab, Khalid Hundallah
Publikováno v:
Frontiers in Pediatrics
Frontiers in Pediatrics, Vol 8 (2020)
Frontiers in Pediatrics, Vol 8 (2020)
Background: Acute necrotizing encephalopathy of childhood (ANEC) is a rapidly progressing encephalopathy characterized by fever, depressed level of consciousness, and seizures. Diagnosis depends on clinical presentation and characteristic neuroimagin
Publikováno v:
Journal of the Neurological Sciences. 405:61-62