Zobrazeno 1 - 10
of 104
pro vyhledávání: '"Ahmed Alfares"'
Autor:
Amerh S. Alqahtani, Raniah S. Alotibi, Taghrid Aloraini, Fahad Almsned, Yara Alassali, Ahmed Alfares, Bader Alhaddad, Mariam M. Al Eissa
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Rare diseases (RDs) create a massive burden for governments and families because sufferers of these diseases are required to undergo long-term treatment or rehabilitation to maintain a normal life. In Saudi Arabia (SA), the prevalence o
Externí odkaz:
https://doaj.org/article/a833fb18a8b94d34b8880c29e369f3f4
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:
Raniah S. Alotibi, Naif S. Sannan, Mariam AlEissa, Marwh G. Aldriwesh, Abeer Al Tuwaijri, Maaged A. Akiel, Mashael Almutairi, Alhanouf Alsamer, Nouf Altharawi, Ghadah Aljawfan, Badi Alotiabi, Mohammed A. AlBlawi, Ahmed Alfares
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
BackgroundNeurodevelopmental disorders are a group of conditions characterized by developmental delays leading to abnormal brain functions. The methods of diagnosis and treatment of these conditions are complicated, and their treatment involves a com
Externí odkaz:
https://doaj.org/article/d00ea30db7dd4a65928be8f0a12d717f
Autor:
Adbul Rafiq Khan, Ali Alothaim, Ahmed Alfares, Adil Jowed, Souad Marwan Al Enazi, Saad Mohammed Al Ghamdi, Ahmed Al Seneid, Areej Algahtani, Saleh Al Zahrani, Majid AlFadhel, Omar Aldibasi, Lamya Abdulaziz AlOmair, Rafah Bajudah, Abeer Nawaf Alanazie
Publikováno v:
Annals of Saudi Medicine, Vol 42, Iss 2, Pp 107-118 (2022)
BACKGROUND: Newborn screening identifies individuals affected by a specific disorder within an apparently healthy population prior to the appearance of symptoms so that appropriate interventions can be initiated in time to minimize the harmful effect
Externí odkaz:
https://doaj.org/article/9a906e71a23e488d86d3fd640f43e3e8
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
Autor:
Majid Alfadhel, Basma Abadel, Hind Almaghthawi, Muhammad Umair, Zuhair Rahbeeni, Eissa Faqeih, Mohammed Almannai, Ali Alasmari, Mohammed Saleh, Wafaa Eyaid, Ahmed Alfares, Fuad Al Mutairi
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMG-CoA lyase) is a rare inborn error of leucine degradation and ketone body synthesis, caused by homozygous or compound heterozygous disease-causing variants in HMGCL. To understand the natural
Externí odkaz:
https://doaj.org/article/1a76d79b4d1d4643b0a6276b01de203b
Autor:
William L. Macken, Annie Godwin, Gabrielle Wheway, Karen Stals, Liliya Nazlamova, Sian Ellard, Ahmed Alfares, Taghrid Aloraini, Lamia AlSubaie, Majid Alfadhel, Sulaiman Alajaji, Htoo A. Wai, Jay Self, Andrew G. L. Douglas, Alexander P. Kao, Matthew Guille, Diana Baralle
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Abstract Background Coat protein complex 1 (COPI) is integral in the sorting and retrograde trafficking of proteins and lipids from the Golgi apparatus to the endoplasmic reticulum (ER). In recent years, coat proteins have been implicated in human di
Externí odkaz:
https://doaj.org/article/80c8d687a6984db2bccd3da2c3505ebc
Autor:
Ahmed Alfares, Lamia Alsubaie, Taghrid Aloraini, Aljoharah Alaskar, Azza Althagafi, Ahmed Alahmad, Mamoon Rashid, Abdulrahman Alswaid, Ali Alothaim, Wafaa Eyaid, Faroug Ababneh, Mohammed Albalwi, Raniah Alotaibi, Mashael Almutairi, Nouf Altharawi, Alhanouf Alsamer, Marwa Abdelhakim, Senay Kafkas, Katsuhiko Mineta, Nicole Cheung, Abdallah Abdallah, Stine Büchmann-Møller, Yoshinori Fukasawa, Xiang Zhao, Issaac Rajan, Robert Hoehndorf, Fuad Al Mutairi, Takashi Gojobori, Majid Alfadhel
Publikováno v:
BMC Medical Genomics, Vol 13, Iss 1, Pp 1-8 (2020)
Abstract Background Testing strategies is crucial for genetics clinics and testing laboratories. In this study, we tried to compare the hit rate between solo and trio and trio plus testing and between trio and sibship testing. Finally, we studied the
Externí odkaz:
https://doaj.org/article/02619d9deba348488774cc3033bd1377