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

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

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

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

Mutation analysis of the arylsulfatase B gene among Egyptian patients with Maroteaux–Lamy disorder

Counseling challenges for prenatal diagnosis