Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Maha Saad Zaki"'
Autor:
Amr Sobhi Gouda, Azza Fahmy Elbaz, Thierry Dupré, Ola Sayed Mohamed Ali, Maha Saad Zaki, Ekram Maher Fateen
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-10 (2021)
Abstract Background Congenital disorders of glycosylation (CDGs) are defined as a group of several rare autosomal recessive inborn errors of metabolism that affect the glycosylation of many proteins and/or lipids. Variable clinical presentation is ve
Externí odkaz:
https://doaj.org/article/962100ee38d44564941b49c9011ee8ef
Autor:
Heba Amin Hassan, Maha Saad Zaki, Mahmoud Yousry Issa, Nagham Maher El-Bagoury, Mona Lotfi Essawi
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 21, Iss 1, Pp 1-7 (2020)
Abstract Background Spinal muscular atrophy (SMA) is the most common autosomal recessive disorder in humans after cystic fibrosis. It is classified into five clinical grades based on age of onset and severity of the disease. Although SMN1 was identif
Externí odkaz:
https://doaj.org/article/c24e195d125e4fe9b21ab4dd01185f09