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of 2
pro vyhledávání: '"Asma Al Madhi"'
Autor:
Ali Al-Otaibi, Alaa AlAyed, Asma Al Madhi, Leena Saeed, Bobby G. Ng, Hudson H. Freeze, Mohammed Almannai
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 30, Iss , Pp 100835- (2022)
Developmental and epileptic encephalopathy type 50 is an autosomal recessive disorder caused by pathogenic variants in CAD. This gene encodes a multifunctional enzyme involved in the initial steps of de novo pyrimidine synthesis. Uridine treatment ha
Externí odkaz:
https://doaj.org/article/81a39f65abc64bd79364b041fee9b177
Autor:
Mohammed Almannai, Dana Marafi, Ghada M. H. Abdel‐Salam, Maha S. Zaki, Ruizhi Duan, Daniel Calame, Isabella Herman, Felix Levesque, Hasnaa M. Elbendary, Ibrahim Hegazy, Wendy K. Chung, Haluk Kavus, Kolsoum Saeidi, Reza Maroofian, Aqeela AlHashim, Ali Al‐Otaibi, Asma Al Madhi, Hager M. Abou Al‐Seood, Ali Alasmari, Henry Houlden, Joseph G. Gleeson, Jill V. Hunter, Jennifer E. Posey, James R. Lupski, Ayman W. El‐Hattab
Publikováno v:
Clin Genet
Homozygous pathogenic variants in WDR45B were first identified in six subjects from three unrelated families with global development delay, refractory seizures, spastic quadriplegia, and brain malformations. Since the initial report in 2018, no furth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ce2bb7aa6264f426cdda2b8a491b72e
https://pubmed.ncbi.nlm.nih.gov/35322404
https://pubmed.ncbi.nlm.nih.gov/35322404