Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Lujane, Alahaidib"'
Autor:
Mazhor Aldosary, Shahad Baselm, Maha Abdulrahim, Rawan Almass, Maysoon Alsagob, Zainab AlMasseri, Rozeena Huma, Laila AlQuait, Tarfa Al‐Shidi, Eman Al‐Obeid, Albandary AlBakheet, Basma Alahideb, Lujane Alahaidib, Alya Qari, Robert W. Taylor, Dilek Colak, Moeenaldeen D. AlSayed, Namik Kaya
Publikováno v:
JIMD Reports, Vol 60, Iss 1, Pp 75-87 (2021)
Abstract SLC25A42 is the main transporter of coenzyme A (CoA) into mitochondria. To date, 15 individuals have been reported to have one of two bi‐allelic homozygous missense variants in the SLC25A42 as the cause of mitochondrial encephalomyopathy,
Externí odkaz:
https://doaj.org/article/48917f01742c4d66a01fabd9bebcdbd0
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