Zobrazeno 1 - 10
of 86
pro vyhledávání: '"Fuad, Al Mutairi"'
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 41, Iss , Pp 101153- (2024)
Background: Elevated plasma levels of 3-hydroxyisovaleryl-carnitine (C5OH) and impaired leucine catabolism are frequently observed in newborn screening reports, necessitating consideration of various diseases in the differential diagnosis. This study
Externí odkaz:
https://doaj.org/article/be18bc5789b14f158f80e92a59e8ddc1
Autor:
Fuad Al Mutairi, Faisal Joueidi, Maha Alshalan, Essra Aloyouni, Mariam Ballow, Mohammed Aldrees, Abdulkareem Al Abdulrahman, Abeer Al Tuwaijri, Safdar Abbas, Muhammad Umair, Majid Alfadhel
Publikováno v:
Heliyon, Vol 10, Iss 15, Pp e35361- (2024)
Background: HMGXB4 (additionally known as HMG2L1) is a non-histone DNA-binding protein that contains a single HMG-box domain. HMGXB4 was originally described in Xenopus where it was seen to negatively regulate the Wnt/β-catenin signaling pathway. Ma
Externí odkaz:
https://doaj.org/article/981d10349b2d4a7aa25dc99fabcd779c
Autor:
Balsam AlMaarik, Taghrid Aloraini, Roselyn Paclejan, Mohammed Balwi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed A. Alfares
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 6, Iss 1, Pp 1-13 (2023)
Background: Accurate diagnosis benefits patients and their families by directing clinical management; predicting recurrence risks; providing prognosis; and preventing the invasive, time-consuming, and costly diagnostic odyssey. The present study aime
Externí odkaz:
https://doaj.org/article/2aa7b28133b04d7c89c33bce75dc89be
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 6, Iss 1, Pp 80-84 (2023)
Background: Atopic dermatitis (AD) is one of the most common diseases encountered in pediatric practice. Genetic factors play a role in the development of this condition. Topical corticosteroids are the cornerstone of AD management, but with potentia
Externí odkaz:
https://doaj.org/article/e857a363e2c4495c919c589335a84624
Publikováno v:
Advances in Oral and Maxillofacial Surgery, Vol 12, Iss , Pp 100452- (2023)
The diagnosis of Cleidocranial dysplasia is approached via clinical features, genetic testing, and imaging. CCD includes delayed or non-closure of cranial sutures the presence of bulging anterior fontanelle and multiple supernumerary teeth. We report
Externí odkaz:
https://doaj.org/article/ed807ef82639441cb01d864720112d03
Autor:
Mohammed Alyahya, Taghrid Aloraini, Youseef Al-Harbi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyaid, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed Alfares
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 5, Iss 2, Pp 37-42 (2022)
Background: Physicians and geneticists face challenges in making accurate diagnoses during clinical evaluations; affecting patients and clinicians. The aim of this study was to estimate the hit rate of the non-consanguineous population. Moreover, pre
Externí odkaz:
https://doaj.org/article/0004dfbc766b4b9f9f11a9c6335bc509
Autor:
Alshaimaa Alzahrani, Maha Alshalan, Mohammed Alfurayh, Abdulaziz Bin Akrish, Najlaa A. Alsubeeh, Fuad Al Mutairi
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
BackgroundCalcium ions are involved in several human cellular processes; nevertheless, the relationship between calcium channelopathies (CCs) and autism spectrum disorder (ASD) or intellectual disability (ID) has been previously investigated. We deli
Externí odkaz:
https://doaj.org/article/7031d07d400a4fdc9017f3283953b37c
Autor:
Mariam Aleissa, Taghrid Aloraini, Lamia Fahad Alsubaie, Madawi Hassoun, Ghada Abdulrahman, Abdulrahman Swaid, Wafa Al Eyaid, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed Alfares
Publikováno v:
Annals of Saudi Medicine, Vol 42, Iss 1, Pp 29-35 (2022)
BACKGROUND: Screening programs for the most prevalent conditions occurring in a country is an evidence-based prevention strategy. The burden of autosomal recessive disease variations in Saudi Arabia is high because of the highly consanguineous popula
Externí odkaz:
https://doaj.org/article/de62a04401dc4de4bc6a1eb3df8ab238
Autor:
Mariam Al Eissa, Taghrid Aloraini, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed Alfares
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 4, Iss 2, Pp 70-75 (2021)
Background: Inborn errors of metabolism (IEM) are prevalent autosomal recessive disorders in Saudi Arabia. Socio-economic factors, such as consanguineous marriages, play a role in the high rate of diseases. The government of Saudi Arabia created a ne
Externí odkaz:
https://doaj.org/article/0aeb3ca91b1e4af2bbf35d3e5be48d9f
Autor:
Majid Alfadhel, Marwan Nashabat, Mohammed Saleh, Mohammed Elamin, Ahmed Alfares, Ali Al Othaim, Muhammad Umair, Hind Ahmed, Faroug Ababneh, Fuad Al Mutairi, Wafaa Eyaid, Abdulrahman Alswaid, Lina Alohali, Eissa Faqeih, Mohammed Almannai, Majed Aljeraisy, Bayan Albdah, Mohamed A. Hussein, Zuhair Rahbeeni, Ali Alasmari
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare, autosomal recessive inborn errors of metabolism that require life-long medical treatment. The trial aimed to evaluate the effectiveness of the administration of ca
Externí odkaz:
https://doaj.org/article/02b629d14359496d9729b89471e20a09