Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Ali Al Othaim"'
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:
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
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 1, Iss 1, Pp 26-30 (2018)
Background: Measurement of branched-chain amino acids (BCAAs) [valine (Val), alloisoleucine (allo-Ile), isoleucine (Ile), and leucine (Leu)] in plasma and dry blood spot samples is important for the diagnosis and monitoring of maple syrup urine disea
Externí odkaz:
https://doaj.org/article/6ab76d17915e44e4b6eb958bb45cdbea
Autor:
Maher Almashary, Minnie Jacob, Mohamed S. Rashed, Mohamad Saeedi, Majid Alfadhel, Zuhair Rahbeeni, Saif Al Saif, Fahd El-Badaoui, Hamad Al-Zaidan, Ayman Alsulaiman, Abeer Migdad, Lujane Y. Al-Ahaidib, Moeenaldeen Al-Sayed, Sulaiman Almohameed, Fuad Al Mutairi, Amal A. A. Saadallah, Mohamed Al-Amoudi, Mohammed Al-Owain, Mansour Alwakeel, Osama Y. Al-Dirbashi, Wafaa Eyaid, Ali Alasmari, Ali Al Othaim, Mohammed Alzahrani, Saeed Aljohery, Ali Al-Odaib, Eissa Faqeih, Zuhair N. Al-Hassnan
Publikováno v:
Journal of Paediatrics and Child Health. 53:585-591
Aim To address the implementation of the National Newborn Screening Program (NBS) in Saudi Arabia and stratify the incidence of the screened disorders. Methods A retrospective study conducted between 1 August 2005 and 31 December 2012, total of 775 0
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6916f6707aa7b3088ec9b90d1305ab9f
https://doi.org/10.1111/jpc.13469
https://doi.org/10.1111/jpc.13469
Autor:
Majid, Alfadhel, Ali, Al Othaim, Saif, Al Saif, Fuad, Al Mutairi, Moeenaldeen, Alsayed, Zuhair, Rahbeeni, Hamad, Alzaidan, Mohammed, Alowain, Zuhair, Al-Hassnan, Mohamad, Saeedi, Saeed, Aljohery, Ali, Alasmari, Eissa, Faqeih, Mansour, Alwakeel, Maher, AlMashary, Sulaiman, Almohameed, Mohammed, Alzahrani, Abeer, Migdad, Osama Y, Al-Dirbashi, Mohamed, Rashed, Mohamed, Alamoudi, Minnie, Jacob, Lujane, Alahaidib, Fahd, El-Badaoui, Amal, Saadallah, Ayman, Alsulaiman, Wafaa, Eyaid, Ali, Al-Odaib
Publikováno v:
Journal of paediatrics and child health. 53(6)
To address the implementation of the National Newborn Screening Program (NBS) in Saudi Arabia and stratify the incidence of the screened disorders.A retrospective study conducted between 1 August 2005 and 31 December 2012, total of 775 000 newborns w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4a43ce4559cc1b4d90b7b045899c78af
https://pubmed.ncbi.nlm.nih.gov/29205653
https://pubmed.ncbi.nlm.nih.gov/29205653
Autor:
Abdul Rafiq Khan, Shazia Mrtaza, Waleed Tamimi, Sara I Altraif, Khalid Muhammed Khan, Ibrahim Altraif, Ali Al-Othaim, Waqas Jamil
Publikováno v:
Modern Chemistry & Applications. 4
Objective: Measurement of ribavirin (RBV) is important for therapeutic drug monitoring in hepatitis C patient. A simple and fast high performance liquid chromatography (HPLC) method developed and validated to measure ribavirin concentration in serum
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6bba09655a21a88ffc984c1cdaf23959
https://doi.org/10.4172/2329-6798.1000187
https://doi.org/10.4172/2329-6798.1000187
Autor:
Abdulrhman A. Alqahtani, Hussam Assiri, Hesham Alshaalan, Shatha Al Rasheed, Daniel Trujillano, Arndt Rolfs, Majid Alfadhel, Wafaa Eyaid, Muhammad Talal Alrifai, Ali Al Othaim, Manal Alaamery
Publikováno v:
JIMD Reports ISBN: 9783662474525
Asparagine synthetase deficiency (ASD) is a newly identified neurometabolic disorder characterized by severe congenital microcephaly, severe global developmental delay, intractable seizure disorder, and spastic quadriplegia. Brain MRI showed brain at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42e7366487fcf18c2525959405b275f0
https://doi.org/10.1007/8904_2014_405
https://doi.org/10.1007/8904_2014_405
Autor:
Mohammed Benmeakel, Majid Alfadhel, Abdullah Alzaben, Ali Al Othaim, Mohammad Arif Hossain, Fuad Al Mutairi, Mohammed Al Balwi, Wafaa Eyaid, Ahmed Alfares
Publikováno v:
Orphanet Journal of Rare Diseases
Background Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concept
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b42d7901f6c50765885e654ae788fd1