Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Maryam Alalwan"'
Publikováno v:
Cureus.
Autor:
Marwan Nashabat, Majid Alfadhel, Maryam Alalwan, Deborah Marsden, Ali Alasmari, Marwah Albanyan, Eissa Faqeih, Wafaa Eyaid, Fuad Al Mutairi, Abdulrahman Obaid, Abdulrahman Alswaid, Aziza M. Mushiba
Publikováno v:
JIMD Reports ISBN: 9783662578797
Very long chain acyl CoA dehydrogenase (VLCAD) deficiency (OMIM#201475) is an autosomal recessive disorder of fatty acid beta oxidation caused by defect in the ACADVL. The aim of this study was to analyze the clinical, biochemical, and molecular feat