Volume & Issue: Volume 11, Issue 1, January 2022 
Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants

Pages 1-11

Noura R. Eissa; Mona L. Essawi; Ghada M.H. Abdel-Salam; Heba A. Hassan; Ekram M. Fateen; Samia A. Temtamy


Fanconi and Non-Fanconi anemia: A Single Center Experience of A Large Egyptian Cohort

Pages 19-28

Manal M. Thomas; Marwa Farid; Ghada Y. El-Kamah; Phoebe M. Abd El-Massieh; Peter SF Erian; Maha M. Eid


Mild phenotype of Molybdenum cofactor (MoCo) deficiency Type B among Egyptian patients

Pages 29-37

Hisham Megahed; Engy A. Ashaat; Samira Ismail; Neveen A. Ashaat; Vincent Cantagrel; Mona O. El Ruby


Health-related quality of life in Egyptian patients with familial Mediterranean fever

Pages 38-45

Manal M. Thomas; Hala T. El-Bassyouni; Phoebe M. Abd El-Massieh; Khaled Hamed