Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation

por Sabry, Sahar, Eissa, Noura R., Zaki, Maha S.
Publicado 2023

An atypical expression of core α-Dystroglycan and Laminin-α2 in skin fibroblasts of patients with congenital muscular dystrophies

por Sabry, Sahar, Issa, Mahmoud Y, Abdel-Hamid, Mohamed S, Eissa, Noura R, Abdel-Ghafar, Sherif F, Ibrahim, Mona M, Zaki, Maha S
Publicado 2023

Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene

por Essawi, Mona L., Fateen, Ekram M., Atia, Hanan A., Eissa, Noura R., Aboul-Ezz, Eman H., Ibrahim, Mona M., Hassan, Heba A., Temtamy, Samia A.
Publicado 2021