Beta-glucocerebrosidase gene mutation in a sample of Egyptian patients with Gaucher disease

Gaucher disease: Recent advances in the diagnosis and management.

Characterization of 42 Egyptian Children with Lysosomal Storage Disorders

Clinical and Molecular Characterization of Achondroplasia in Egyptian Patients

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

Fanconi Anemia in Egyptian Children: High Consanguinity, Congenital Anomalies, and Bone Marrow Failure in a Tertiary Center Cohort

Biochemical Diagnosis of Peroxisomal Disorders by GC/MS: Egyptian Patients with X-linked Adrenoleukodystrophy

Phenotypic Study of Egyptian Pediatric Patients with Criglar Najjar Syndrome

Children Exposed to Treatments in Utero in Pregnant Patients with Breast Cancer: Experience from Two Large Egyptian Hospitals

Inborn Errors of Metabolism among Suspected Patients Referred to the Genetic Clinic in Alexandria