Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Ahmad, Alfares"'
Autor:
Abeer Z. Alotaibi, Reem H. AlMalki, Maha Al Mogren, Rajaa Sebaa, Mohammad Alanazi, Minnie Jacob, Ahamd Alodaib, Ahmad Alfares, Anas M. Abdel Rahman
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 11, p 5720 (2024)
Currently, tandem mass spectrometry-based newborn screening (NBS), which examines targeted biomarkers, is the first approach used for the early detection of maple syrup urine disease (MSUD) in newborns, followed by confirmatory genetic mutation tests
Externí odkaz:
https://doaj.org/article/63e40c19b91544eaa143a7335b889c2d
Autor:
Ahmad Alfares, Majid Alfadhel, Ahmed Mujamammi, Batoul Alotaibi, Sarah Albahkali, Mohammed Al Balwi, Hicham Benabdelkamel, Afshan Masood, Rizwan Ali, Amani Almuaysib, Saeed Al Mahri, Sameer Mohammad, Ibrahim O. Alanazi, Assim Alfadda, Saleh AlGhamdi, Bahauddeen M. Alrfaei
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 7 (2020)
Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) is a coenzyme encoded by ACADVL that converts very-long-chain fatty acids into energy. This process is disrupted by c.65C > A; p.Ser22∗ mutation. To clarify mechanisms by which this mutation lea
Externí odkaz:
https://doaj.org/article/228c8a37491a44cfa334be6ea544ec44
Autor:
Azza Althagafi, Lamia Alsubaie, Nagarajan Kathiresan, Katsuhiko Mineta, Taghrid Aloraini, Fuad Al Mutairi, Majid Alfadhel, Takashi Gojobori, Ahmad Alfares, Robert Hoehndorf
Publikováno v:
Bioinformatics. 38:1677-1684
Motivation Structural genomic variants account for much of human variability and are involved in several diseases. Structural variants are complex and may affect coding regions of multiple genes, or affect the functions of genomic regions in differen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f7a29de7ecf424091c336352c173dcf
https://doi.org/10.1093/bioinformatics/btab859
https://doi.org/10.1093/bioinformatics/btab859
Autor:
Ahmad, Alfares, Majid, Alfadhel, Ahmed, Mujamammi, Batoul, Alotaibi, Sarah, Albahkali, Mohammed, Al Balwi, Hicham, Benabdelkamel, Afshan, Masood, Rizwan, Ali, Amani, Almuaysib, Saeed, Al Mahri, Sameer, Mohammad, Ibrahim O, Alanazi, Assim, Alfadda, Saleh, AlGhamdi, Bahauddeen M, Alrfaei
Publikováno v:
Frontiers in Cell and Developmental Biology
Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) is a coenzyme encoded by ACADVL that converts very-long-chain fatty acids into energy. This process is disrupted by c.65C > A; p.Ser22∗ mutation. To clarify mechanisms by which this mutation lea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::874c7127850767925f4c6db963573cd5
https://pubmed.ncbi.nlm.nih.gov/32010688
https://pubmed.ncbi.nlm.nih.gov/32010688