Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants

A rare mutation in an Egyptian family with Sanfilippo B syndrome

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

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

Clinical and Genetic Study of Exons (23, 24, 26, 27) of ABCB11 Gene in Egyptian Progressive Familial Intrahepatic Cholestasis 2 Patients

Characterization of 42 Egyptian Children with Lysosomal Storage Disorders

Clinical and Molecular Study of Exons [10-14] of ABCB11 Gene in PFIC2 Patients in Egypt

Screening For Very Long Chain Fatty Acids in Egyptian Children with Inherited Peroxisomal Disorders

Genetic investigations on certain genes associated with type 1 diabetes in some Egyptions

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