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

Mucopolysaccharidosis in Egyptian children : Clinical and biochemical profile of 20 cases

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

Clinical Characterization of 53 Egyptian children diagnosed as Duchenne Muscular Dystrophy in tertiary unit in upper Egypt

Clinical and hearing function assessment among children with mucopolysacchridosis attending Alexandria university children hospital

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

Cardiac Affection in Lysosomal Storage Disorders: Review Article

A rare mutation in an Egyptian family with Sanfilippo B syndrome

Mutational Screening of (CLN6), (CLN7) and (CLN14) Genes in Egyptian Patients with Neuronal Ceroid Lipofuscinosis.

Prenatal counseling and diagnosis of Gaucher disease in Egypt: an 18-year experience