Ekram Maher Fateen - Genetic Mutations

Author Information

Ekram Maher Fateen is a prominent researcher affiliated with the Department of Biochemical Genetics at the Human Genetics and Genome Research Institute, National Research Centre in Cairo, Egypt. Her work is deeply rooted in the field of genetics, with a particular focus on the diagnosis and molecular characterization of various genetic disorders. Her contributions are significant in the context of understanding and diagnosing rare genetic diseases in the Egyptian population.

Research Contributions

Ekram Maher Fateen has extensively contributed to the field of genetic research, particularly in the study and diagnosis of lysosomal storage disorders and other metabolic conditions. Her publications indicate a strong focus on enzyme replacement therapy, glycosylation disorders, and the genetic underpinnings of diseases such as Gaucher disease, Niemann-Pick Type C, Pompe disease, and Sanfilippo syndrome. Her work often involves the identification of novel mutations and the development of diagnostic schemes, which are crucial for advancing medical genetics in Egypt and beyond.

Aliases

Throughout her academic career, Ekram Maher Fateen has been referenced under various aliases such as Ekram M Fateen, E. Fateen, E Fateen, Ekram Fateen, and Ekram M. Fateen. These variations are common in academic publishing and help in accurately identifying her contributions across different platforms and publications.

Publication and Citation Metrics

Metric Value
Total Papers 54
Total Citations 226
H-index 9

Publications:

DOI: 10.21608/AIJPMS.2021.60825.1044

Year: 2021

DOI: 10.1186/s43042-021-00203-7

Year: 2021

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